MCID: BRT004
MIFTS: 56

Bartter Disease

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Bartter Disease

MalaCards integrated aliases for Bartter Disease:

Name: Bartter Disease 12 25 15 72
Bartter Syndrome 53 25 59 37 29 6 44
Bartter's Syndrome 12 53 25
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 25
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 59
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 25
Salt-Losing Tubular Disorder, Henle's Loop Type 59
Salt-Wasting Tubulopathy, Henle's Loop Type 59
Hypokalemic Alkalosis with Hypercalciuria 53
Potassium Wasting 53
Bartters Syndrome 55

Characteristics:

Orphanet epidemiological data:

59
bartter syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Sweden),1-9/100000 (Kuwait); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
KEGG 37 H00239
ICD9CM 35 255.13
MeSH 44 D001477
NCIt 50 C34412
SNOMED-CT 68 71275003
ICD10 33 E26.81
MESH via Orphanet 45 D001477
ICD10 via Orphanet 34 E26.8
UMLS via Orphanet 73 C0004775
Orphanet 59 ORPHA112
UMLS 72 C0004775

Summaries for Bartter Disease

Genetics Home Reference : 25 Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.

MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 2, antenatal and infantile bartter syndrome with sensorineural deafness. An important gene associated with Bartter Disease is KCNJ1 (Potassium Inwardly Rectifying Channel Subfamily J Member 1), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Spironolactone and Amphotericin B have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are short stature and abnormality of metabolism/homeostasis

NIH Rare Diseases : 53 Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain weight as expected (failure to thrive). Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. Bartter syndrome is caused by mutations in any one of at least 5 genes and is usually inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the age of onset, severity, and the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on restoring and maintaining the proper balance of fluids and electrolytes in the body.

KEGG : 37
Bartter syndrome (BARTS) is a heterogeneous rare disease unified by autosomal recessive transmission. BS is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.

Wikipedia : 75 Bartter syndrome is a rare inherited disease characterised by a defect in the thick ascending limb of... more...

Related Diseases for Bartter Disease

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome Type 4

Diseases related to Bartter Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 264, show less)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 2, antenatal 33.2 KCNJ1 CASR
2 infantile bartter syndrome with sensorineural deafness 33.1 CLCNKB CLCNKA BSND
3 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.6 CLCNKB CLCNKA
4 bartter syndrome, type 3 31.6 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB BSND
5 chondrocalcinosis 30.7 SLC12A3 CASR
6 pseudohyperkalemia, familial, 2, due to red cell leak 30.6 REN KCNJ1
7 renal hypertension 30.1 SLC12A3 REN
8 hypercalciuria, absorptive, 2 30.0 CLCN5 CASR
9 polyhydramnios 30.0 SLC12A1 KCNJ1 CLCNKB
10 interstitial nephritis 29.9 UMOD REN
11 pseudohypoaldosteronism 29.9 SLC12A3 REN KCNJ1
12 vesicoureteral reflux 1 29.8 UMOD REN
13 diabetes insipidus 29.8 SLC12A1 REN CLCNKA
14 hypertension, essential 29.8 SLC12A3 SLC12A1 REN
15 antenatal bartter syndrome 29.6 SLC12A1 REN KCNJ1 BSND
16 diabetes insipidus, nephrogenic, autosomal 29.5 SLC12A1 CLCNKA CASR
17 nephrolithiasis, calcium oxalate 29.5 UMOD CLCN5 CASR
18 kidney disease 29.2 UMOD REN CLCN5 CASR
19 dent disease 1 29.0 CLCNKB CLCNKA CLCN5
20 hypokalemia 28.8 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB BSND
21 gitelman syndrome 28.6 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CASR
22 nephrocalcinosis 28.4 UMOD SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCN5
23 bartter syndrome, type 1, antenatal 11.9
24 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.9
25 bartter syndrome, type 5, antenatal, transient 11.8
26 syndrome of inappropriate antidiuretic hormone 11.5
27 thyrotoxic periodic paralysis 11.2
28 diarrhea 1, secretory chloride, congenital 11.2
29 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.2
30 primary hypomagnesemia 11.2
31 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
32 sensorineural hearing loss 10.4
33 arthrogryposis, distal, type 3 10.3 SLC12A3 REN
34 cystic fibrosis 10.3
35 renal tubular acidosis 10.3
36 hyperuricemia 10.3
37 gout 10.3
38 rickets 10.2
39 cystinosis, nephropathic 10.2
40 focal segmental glomerulosclerosis 10.2
41 paraneoplastic syndromes 10.2
42 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
43 autosomal recessive disease 10.2
44 congenital chloride diarrhea 10.1
45 lambert-eaton myasthenic syndrome 10.1
46 distal renal tubular acidosis 10.1
47 anorexia nervosa 10.1
48 diarrhea 10.1
49 hyperparathyroidism 10.1
50 pseudohypoparathyroidism 10.1
51 cholelithiasis 10.1
52 gastric ulcer 10.1
53 porphyria 10.1
54 chronic kidney disease 10.1
55 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 SLC12A3 KCNJ1
56 fibrosis of extraocular muscles, congenital, 1 10.1
57 intracranial hypertension, idiopathic 10.1
58 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.1
59 cystinosis 10.1
60 conn's syndrome 10.1
61 graves' disease 10.1
62 secondary hyperparathyroidism 10.1
63 myopathy 10.1
64 end stage renal failure 10.1
65 bartter syndrome type 4 10.1
66 xanthinuria, type i 10.0 UMOD CASR
67 autoimmune disease 10.0
68 apparent mineralocorticoid excess 10.0
69 gallbladder disease 1 10.0
70 small cell carcinoma 10.0
71 gastroenteritis 10.0
72 pulmonary tuberculosis 10.0
73 cystic kidney disease 10.0
74 gastritis 10.0
75 chromosomal triplication 10.0
76 polymyositis 10.0
77 tuberculous meningitis 10.0
78 brain injury 10.0
79 hypotonia 10.0
80 multicystic dysplastic kidney 10.0
81 unilateral multicystic dysplastic kidney 10.0
82 hypomagnesemia 2, renal 10.0
83 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
84 amelogenesis imperfecta, type ig 10.0
85 hydrops, lactic acidosis, and sideroblastic anemia 10.0
86 hyperphosphatemia 10.0
87 bone disease 10.0
88 osteomalacia 10.0
89 hydronephrosis 10.0
90 visual epilepsy 10.0
91 amenorrhea 10.0
92 constipation 10.0
93 amelogenesis imperfecta 10.0
94 glomerulonephritis 10.0
95 vasculitis 10.0
96 eating disorder 10.0
97 diabetes mellitus 10.0
98 seizure disorder 10.0
99 periodic paralysis 10.0
100 leptospirosis 10.0
101 deafness, autosomal recessive 96 9.9 CLCNKB CLCNKA
102 autosomal recessive nonsyndromic deafness 36 9.9 CLCNKB CLCNKA
103 idiopathic hypercalciuria 9.9 REN CLCN5 CASR
104 branchiootic syndrome 1 9.9
105 metabolic acidosis 9.9
106 atrioventricular block 9.9
107 second-degree atrioventricular block 9.9
108 alcohol dependence 9.8
109 gastroesophageal reflux 9.8
110 fanconi renotubular syndrome 1 9.8
111 hirschsprung disease 1 9.8
112 osteoporosis 9.8
113 pheochromocytoma 9.8
114 porphyria, acute intermittent 9.8
115 liddle syndrome 1 9.8
116 renal tubular acidosis, proximal 9.8
117 down syndrome 9.8
118 anencephaly 9.8
119 mitochondrial complex iv deficiency 9.8
120 fanconi-like syndrome 9.8
121 hydrops fetalis, nonimmune 9.8
122 oculocerebral syndrome with hypopigmentation 9.8
123 pendred syndrome 9.8
124 graves disease 1 9.8
125 ataxia and polyneuropathy, adult-onset 9.8
126 kearns-sayre syndrome 9.8
127 body mass index quantitative trait locus 1 9.8
128 patent ductus arteriosus 1 9.8
129 bone mineral density quantitative trait locus 8 9.8
130 bone mineral density quantitative trait locus 15 9.8
131 mucopolysaccharidosis-plus syndrome 9.8
132 helix syndrome 9.8
133 nonsyndromic deafness 9.8
134 oculocutaneous albinism 9.8
135 adrenal gland pheochromocytoma 9.8
136 basal ganglia calcification 9.8
137 allergic hypersensitivity disease 9.8
138 neurogenic bladder 9.8
139 locked-in syndrome 9.8
140 acute cystitis 9.8
141 hypothyroidism 9.8
142 heart septal defect 9.8
143 status epilepticus 9.8
144 atrial heart septal defect 9.8
145 hyperinsulinism 9.8
146 larynx cancer 9.8
147 iga glomerulonephritis 9.8
148 acute porphyria 9.8
149 olfactory neuroblastoma 9.8
150 hair disease 9.8
151 brain edema 9.8
152 peripheral nervous system disease 9.8
153 bronchitis 9.8
154 central pontine myelinolysis 9.8
155 inherited metabolic disorder 9.8
156 cataract 9.8
157 intestinal obstruction 9.8
158 chickenpox 9.8
159 neuropathy 9.8
160 meningitis 9.8
161 albinism 9.8
162 morquio syndrome 9.8
163 c1q nephropathy 9.8
164 fetal edema 9.8
165 hydrops fetalis 9.8
166 pectus carinatum 9.8
167 ring chromosome 8 9.8
168 secondary adrenal insufficiency 9.8
169 trisomy 3 mosaicism 9.8
170 aneurysm 9.8
171 head injury 9.8
172 immune hydrops fetalis 9.8
173 ring chromosome 9.8
174 mosaic trisomy 3 9.8
175 acanthosis nigricans 9.8
176 atrial standstill 1 9.8
177 hair whorl 9.8
178 gilbert syndrome 9.8
179 hypokalemic periodic paralysis, type 1 9.8
180 pyloric stenosis, infantile hypertrophic, 1 9.8
181 sarcoidosis 1 9.8
182 lipoid congenital adrenal hyperplasia 9.8
183 pseudohypoparathyroidism, type ii 9.8
184 enterocolitis 9.8
185 hypokalemic alkalosis, familial, with specific renal tubulopathy 9.8
186 myasthenia gravis 9.8
187 ocular motor apraxia 9.8
188 sjogren syndrome 9.8
189 body mass index quantitative trait locus 11 9.8
190 hypocalcemia, autosomal dominant 1 9.8
191 yemenite deaf-blind hypopigmentation syndrome 9.8
192 body mass index quantitative trait locus 9 9.8
193 body mass index quantitative trait locus 8 9.8
194 ventricular fibrillation, paroxysmal familial, 1 9.8
195 orthostatic intolerance 9.8
196 body mass index quantitative trait locus 4 9.8
197 body mass index quantitative trait locus 10 9.8
198 body mass index quantitative trait locus 7 9.8
199 body mass index quantitative trait locus 12 9.8
200 body mass index quantitative trait locus 14 9.8
201 muscle hypertrophy 9.8
202 meconium ileus 9.8
203 body mass index quantitative trait locus 18 9.8
204 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
205 body mass index quantitative trait locus 19 9.8
206 body mass index quantitative trait locus 20 9.8
207 hypophosphatemia 9.8
208 pain agnosia 9.8
209 isolated growth hormone deficiency 9.8
210 sialadenitis 9.8
211 fanconi syndrome 9.8
212 hydrocephalus 9.8
213 respiratory failure 9.8
214 hypoparathyroidism 9.8
215 nephrotic syndrome 9.8
216 primary biliary cirrhosis 9.8
217 hypertrophic pyloric stenosis 9.8
218 pyloric stenosis 9.8
219 guillain-barre syndrome 9.8
220 renal osteodystrophy 9.8
221 tuberous sclerosis 9.8
222 primary hypertrophic osteoarthropathy 9.8
223 communicating hydrocephalus 9.8
224 renovascular hypertension 9.8
225 duodenal ulcer 9.8
226 viral hepatitis 9.8
227 rectum cancer 9.8
228 thrombocytosis 9.8
229 retinal vascular disease 9.8
230 agammaglobulinemia 9.8
231 bilirubin metabolic disorder 9.8
232 acute kidney failure 9.8
233 astrocytoma 9.8
234 inappropriate adh syndrome 9.8
235 bronchial neoplasm 9.8
236 hyperglycemia 9.8
237 lung oat cell carcinoma 9.8
238 placenta disease 9.8
239 ileus 9.8
240 intestinal volvulus 9.8
241 arthritis 9.8
242 muscular dystrophy 9.8
243 hypoglycemia 9.8
244 47,xyy 9.8
245 aminoaciduria 9.8
246 congenital hydrocephalus 9.8
247 dwarfism 9.8
248 fibromatosis 9.8
249 growth hormone deficiency 9.8
250 idiopathic edema 9.8
251 primary biliary cholangitis 9.8
252 pure autonomic failure 9.8
253 slc4a1-associated distal renal tubular acidosis 9.8
254 aldosterone-producing adenoma 9.8
255 hereditary hypophosphatemic rickets 9.8
256 encephalopathy 9.8
257 paresthesia 9.8
258 posttransplant acute limbic encephalitis 9.8
259 familial calcium pyrophosphate deposition 9.8
260 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 9.8
261 specific language disorder 9.8
262 urinary tract obstruction 9.7 UMOD REN
263 mineral metabolism disease 8.9 SLC12A3 REN KCNJ1 CLCNKB CLCN5 CASR
264 renal tubular transport disease 7.9 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA

Graphical network of the top 20 diseases related to Bartter Disease:



Diseases related to Bartter Disease

Symptoms & Phenotypes for Bartter Disease

Human phenotypes related to Bartter Disease:

59 32 (showing 2, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939

MGI Mouse Phenotypes related to Bartter Disease:

46 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 BSND CASR KCNJ1 REN SLC12A1 SLC12A2
2 growth/size/body region MP:0005378 9.81 BSND CASR CLCN5 CLCNKA KCNJ1 REN
3 cardiovascular system MP:0005385 9.8 BSND CLCNKA KCNJ1 REN SLC12A1 SLC12A2
4 homeostasis/metabolism MP:0005376 9.7 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
5 renal/urinary system MP:0005367 9.32 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1

Drugs & Therapeutics for Bartter Disease

Drugs for Bartter Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 26, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Hormones Phase 4
5 Diuretics, Potassium Sparing Phase 4
6 Natriuretic Agents Phase 4
7 Mineralocorticoid Receptor Antagonists Phase 4
8 diuretics Phase 4
9 Mineralocorticoids Phase 4
10 Hormone Antagonists Phase 4
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
12 Antifungal Agents Phase 4
13 Liposomal amphotericin B Phase 4
14 Anti-Infective Agents Phase 4
15 Anti-Bacterial Agents Phase 4
16 Antiparasitic Agents Phase 4
17 Antiprotozoal Agents Phase 4
18
Parathyroid hormone Approved, Investigational 9002-64-6
19
Acetazolamide Approved, Vet_approved 59-66-5 1986
20
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
21
Calcium Approved, Nutraceutical 7440-70-2 271
22 Sodium Chloride Symporter Inhibitors
23 Anticonvulsants
24 Carbonic Anhydrase Inhibitors
25 Calcium, Dietary
26 Antihypertensive Agents

Interventional clinical trials:

(showing 10, show less)
# Name Status NCT ID Phase Drugs
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
2 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
3 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone
4 Study of Myocardial Interstitial Fibrosis in Hyperaldosteronism Noninvasive Comparative Study in Humans of the Respective Cardiovascular Effects of Hyperaldosteronism and Hypertension by Magnetic Resonance Imaging Completed NCT02938910
5 Medications and the Risk of Sudden Cardiac Death Completed NCT00241800
6 A Translational Approach to Gitelman Syndrome Completed NCT00822107 Hydrochlorothiazide
7 Acetazolamide (AZ) for Management of Refractory Hypokalemia Metabolic Alkalosis in Bartter Syndrome Recruiting NCT03847571 Acetazolamide
8 Comparison of the Impact of Nutritional Treatment vs Hydrochlorothiazide on Bone Mineral Density and Body Composition in Children With Idiopathic Hypercalciuria of the Hospital Infantil de Méxio Federico Gómez Recruiting NCT03951558 Hydrochlorothiazide
9 Screening for Primary Aldosteronism in a Population of Patients With Hypertension Recruiting NCT03105531
10 Stone Disease in Children and Their Families Available NCT00765531

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Captopril
Enalapril
Enalapril Maleate
Enalaprilat

Cochrane evidence based reviews: bartter syndrome

Genetic Tests for Bartter Disease

Genetic tests related to Bartter Disease:

# Genetic test Affiliating Genes
1 Bartter Syndrome 29

Anatomical Context for Bartter Disease

MalaCards organs/tissues related to Bartter Disease:

41
Kidney, Bone, Cortex, Adrenal Cortex, Lung, Brain, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bartter Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Loop of Henle Loop of Henle Cells Affected by disease

Publications for Bartter Disease

Articles related to Bartter Disease:

(showing 696, show less)
# Title Authors PMID Year
1
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. 9 38 71
19513753 2009
2
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. 9 38 71
12574213 2003
3
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 9 38 71
11687798 2001
4
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. 9 38 71
9727001 1998
5
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. 9 38 71
9015377 1997
6
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. 9 38 71
9002665 1997
7
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. 38 71
26963954 2016
8
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. 38 71
18310267 2008
9
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. 38 71
11102542 2000
10
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 38 71
10906158 2000
11
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. 9 71
9580661 1998
12
Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. 38 71
9630034 1998
13
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 38 71
9463315 1998
14
A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. 9 71
9355073 1997
15
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9 71
9326936 1997
16
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 9 71
8841184 1996
17
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 9 71
8640224 1996
18
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 71
28095294 2017
19
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. 71
27120771 2016
20
Threading through the mizmaze of Bartter syndrome. 38 6
16773399 2006
21
Salt wasting and deafness resulting from mutations in two chloride channels. 71
15044642 2004
22
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 71
11734858 2001
23
Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia. 9 38
20219826 2010
24
New roles for renal potassium channels. 9 38
20091480 2010
25
Genetic causes of hypercalciuric nephrolithiasis. 9 38
18446382 2009
26
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 9 38
19646679 2009
27
A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2. 9 38
19535327 2009
28
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 9 38
18843510 2009
29
Successful utilization of aliskiren, a direct renin inhibitor in Bartter syndrome. 9 38
19279535 2009
30
Large-scale proteomics and phosphoproteomics of urinary exosomes. 9 38
19056867 2009
31
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 9 38
18776122 2009
32
Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. 9 38
18443236 2008
33
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. 9 38
18094726 2008
34
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. 9 38
17998760 2007
35
Genetics of hypercalciuric nephrolithiasis: renal stone disease. 9 38
17872384 2007
36
Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. 9 38
17622951 2007
37
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. 9 38
17401586 2007
38
Neonatal Bartter syndrome. 9 38
16899189 2006
39
A patient with cystinosis presenting transient features of Bartter syndrome. 9 38
17172073 2006
40
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 9 38
17048213 2006
41
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 9 38
16773427 2006
42
Type IV Bartter syndrome: report of two new cases. 9 38
16583241 2006
43
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 9 38
16328537 2006
44
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. 9 38
16391491 2006
45
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. 9 38
15875219 2005
46
Renal tubular transport and the genetic basis of hypertensive disease. 9 38
15980941 2005
47
Expression of the potassium channel ROMK in adult and fetal human kidney. 9 38
15895241 2005
48
Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter. 9 38
14638903 2003
49
The neonatal variant of Bartter syndrome and deafness: preservation of renal function. 9 38
12949294 2003
50
Bartter syndrome. 9 38
12920401 2003
51
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. 9 38
12911542 2003
52
Bartter syndrome complicated by immune complex nephropathy. Case report and literature review. 9 38
12836094 2003
53
Hereditary Hypokalemic Salt-losing Tubular Disorders. 9 38
17657111 2003
54
Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. 9 38
12761627 2003
55
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. 9 38
12761241 2003
56
Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. 9 38
12640382 2003
57
Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. 9 38
12589089 2003
58
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. 9 38
12472765 2003
59
Placental pathology in fetal bartter syndrome. 9 38
11815871 2002
60
Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome. 9 38
11810218 2002
61
Human and murine phenotypes associated with defects in cation-chloride cotransport. 9 38
11826289 2002
62
Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. 9 38
11780689 2001
63
[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel]. 9 38
11795013 2001
64
Genotype/phenotype observations in African Americans with Bartter syndrome. 9 38
11445802 2001
65
Phenotypic variability in Bartter syndrome type I. 9 38
10975303 2000
66
Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome. 9 38
9848791 1998
67
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. 9 38
9585600 1998
68
Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome. 9 38
9502574 1998
69
Concomitant occurrence of Gitelman and Bartter syndromes in the same family? 9 38
9502562 1998
70
[Hypokalemia in the course of a Bartter syndrome]. 9 38
8016500 1994
71
[The Bartter-like syndrome in 2 twins]. 9 38
8255271 1993
72
Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter. 38
31362893 2019
73
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. 38
30977917 2019
74
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report. 38
31409296 2019
75
A novel mutation associated with Type III Bartter syndrome: A report of five cases. 38
31115572 2019
76
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis. 38
31325522 2019
77
Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy? 38
31328366 2019
78
Pseudo-Bartter syndrome in children with cystic fibrosis. 38
31183080 2019
79
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. 38
30790175 2019
80
Classic Bartter Syndrome: A Cause of Severe Hypokalemic Metabolic Alkalosis. 38
31230456 2019
81
Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka. 38
31126253 2019
82
Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome. 38
30999883 2019
83
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome. 38
30426218 2019
84
Growth hormone deficiency in children with antenatal Bartter syndrome. 38
30844761 2019
85
Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation. 38
30387909 2019
86
Bartter Syndrome and Gitelman Syndrome. 38
30454738 2019
87
Urinary proteome in inherited nephrolithiasis. 38
30564846 2019
88
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms. 38
30470867 2019
89
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 38
30760291 2019
90
Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. 38
29953267 2019
91
A novel differential diagnosis to nonobstructive diffuse and dilated bowel loops with polyhydramnios: Bartter syndrome. 38
30246465 2019
92
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. 38
30851722 2019
93
Two neonates with Bartter syndrome. 38
30410160 2018
94
Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome. 38
29442545 2018
95
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome. 38
30174009 2018
96
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. 38
29520692 2018
97
Bartter syndrome-like phenotype in a patient with diabetes: a case report. 38
30115098 2018
98
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. 38
29849040 2018
99
Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin. 38
29674316 2018
100
Etiological Search and Epidemiological Profile in Patients Presenting with Hypokalemic Paresis: An Observational Study. 38
30090734 2018
101
[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies]. 38
29786180 2018
102
Reconstructing normality following the diagnosis of a childhood chronic disease: does "rare" make a difference? 38
29335841 2018
103
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. 38
29146702 2018
104
Bartter syndrome: causes, diagnosis, and treatment. 38
30519073 2018
105
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. 38
29900164 2018
106
Osteomalacia in a Case of Adult-Onset Bartter Syndrome. 38
30756015 2018
107
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. 38
29421779 2018
108
Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl-/H+ Antiporter ClC-5. 38
30405442 2018
109
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. 38
29527380 2018
110
Reversible Hypokalemia and Bartter-Like Syndrome during Prolonged Systemic Therapy with Colistimethate Sodium in an Adult Patient. 38
28699114 2017
111
Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in CFTR. 38
29133775 2017
112
Mutation spectrum of Chinese patients with Bartter syndrome. 38
29254190 2017
113
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. 38
29141924 2017
114
[A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient]. 38
29036958 2017
115
Late-onset Bartter syndrome type II. 38
28979772 2017
116
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations. 38
28674042 2017
117
[Gene analysis in a family with adult onset Bartter syndrome type 2]. 38
28870038 2017
118
[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome]. 38
28870047 2017
119
Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury. 38
28984259 2017
120
Neonatal bartter syndrome in an extremely low birth weight baby. 38
28937079 2017
121
Pathophysiology of antenatal Bartter's syndrome. 38
28598867 2017
122
Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome. 38
28630040 2017
123
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening. 38
28775266 2017
124
Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease. 38
28751295 2017
125
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. 38
28381550 2017
126
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research. 38
28598505 2017
127
Identification of the Causes for Chronic Hypokalemia: Importance of Urinary Sodium and Chloride Excretion. 38
28213045 2017
128
[Poor weight gain, recurrent metabolic alkalosis and hypokalemia in a neonate]. 38
28697837 2017
129
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. 38
28612006 2017
130
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report. 38
28498361 2017
131
Nephrogenic diabetes insipidus. 38
28134709 2017
132
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone. 38
28377333 2017
133
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. 38
28285303 2017
134
Genetic heterogeneity in patients with Bartter syndrome type 1. 38
28000888 2017
135
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact. 38
28555110 2017
136
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. 38
28012523 2017
137
Potassium Homeostasis, Oxidative Stress, and Human Disease. 38
29218312 2017
138
[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.] 38
28336828 2017
139
[Erratum to "Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation"]. 38
29385379 2017
140
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. 38
27748541 2017
141
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. 38
28288174 2017
142
Unusual Complication of Multidrug Resistant Tuberculosis. 38
29075541 2017
143
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron. 38
27335120 2017
144
Acute kidney injury in type 3 Bartter syndrome: Angiotensin-converting enzyme inhibitors as a cause. 38
28008741 2016
145
Acute Psychosis in Two Patients with Bartter Syndrome. 38
26779748 2016
146
Neurological Disorders Complicating Pregnancy - Focus on Obstetric Outcome. 38
28208940 2016
147
Acquired Bartter syndrome following gentamicin therapy. 38
27942182 2016
148
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome. 38
28018459 2016
149
[HYPOKALEMIC METABOLIC ALKALOSIS – A REPORT OF SIX CASES]. 38
30148552 2016
150
Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics. 38
27339034 2016
151
[Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation]. 38
29384126 2016
152
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. 38
27648267 2016
153
Unusual case of failure to thrive: Type III Bartter syndrome. 38
28327689 2016
154
Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association. 38
27682612 2016
155
Functional and structural abnormalities of the kidney and urinary tract in severely malnourished children - A hospital based study. 38
27882009 2016
156
Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV. 38
27511787 2016
157
[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome]. 38
27530794 2016
158
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. 38
27181088 2016
159
Accentuated hyperparathyroidism in type II Bartter syndrome. 38
26857709 2016
160
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. 38
25935500 2016
161
Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination. 38
27183948 2016
162
Clinical and genetic analyses of Chinese patients with Gitelman syndrome. 38
27173320 2016
163
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1. 38
26323216 2016
164
Bartter Syndrome with Normal Aldosterone Level: An Unusual Presentation. 38
27277374 2016
165
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria. 38
26755355 2016
166
Romk1 Knockout Mice Do Not Produce Bartter Phenotype but Exhibit Impaired K Excretion. 38
26728465 2016
167
OS9 Protein Interacts with Na-K-2Cl Co-transporter (NKCC2) and Targets Its Immature Form for the Endoplasmic Reticulum-associated Degradation Pathway. 38
26721884 2016
168
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. 38
25880437 2016
169
Bartter syndrome associated with nephropathic cystinosis. 38
28096565 2016
170
Stridor and apnea as the initial presentation of primary hypoparathyroidism. 38
26746608 2016
171
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone. 38
26528764 2016
172
Diagnosis of antenatal Bartter syndrome. 38
27328514 2016
173
Amniotic fluid biochemistry in isolated polyhydramnios: a series of 464 cases. 38
26426702 2015
174
Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking. 38
26453302 2015
175
Pseudo-Bartter's Syndrome in Patients with Cystic Fibrosis: A Case Series and Review of the Literature. 38
26946774 2015
176
Novel brain MRI abnormalities in Gitelman syndrome. 38
26443301 2015
177
Adult presentation of Bartter syndrome type IV with erythrocytosis. 38
26537508 2015
178
Acquired Bartter-Like Phenotype. 38
27608875 2015
179
[Cystic fibrosis: A report of 33 pediatric Tunisian cases]. 38
26815526 2015
180
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. 38
25741940 2015
181
Neonates with Bartter syndrome have enormous fluid and sodium requirements. 38
25703573 2015
182
Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional. 38
26013830 2015
183
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. 38
25923035 2015
184
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3. 38
25810436 2015
185
Profile of renal diseases in Iraqi children: A single-center report. 38
26022043 2015
186
A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome. 38
25933468 2015
187
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C. 38
25932037 2015
188
Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes. 38
25422309 2015
189
NKCC2 activity is inhibited by the Bartter's syndrome type 5 gain-of-function CaR-A843E mutant in renal cells. 38
25631355 2015
190
Sclerochoroidal calcification: clinical features, outcomes, and relationship with hypercalcemia and parathyroid adenoma in 179 eyes. 38
25574788 2015
191
KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma. 38
25344677 2015
192
[Bartter syndrome and Gitelman syndrome]. 38
26126331 2015
193
A quality of life quandary: a framework for navigating parental refusal of treatment for co-morbidities in infants with underlying medical conditions. 38
25794289 2015
194
A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration. 38
25606418 2014
195
Clinical profile and outcome of renal tubular disorders in children: A single center experience. 38
25484529 2014
196
Phosphate homeostasis in Bartter syndrome: a case-control study. 38
24902942 2014
197
I-J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes. 38
25073071 2014
198
Genetic analysis in Bartter syndrome from India. 38
24696311 2014
199
Neonatal bartter syndrome. 38
25638238 2014
200
Treatment of Bartter syndrome. Unsolved issue. 38
24878005 2014
201
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels. 38
24271511 2014
202
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. 38
24825090 2014
203
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice. 38
25084970 2014
204
Episodic seasonal Pseudo-Bartter syndrome in cystic fibrosis. 38
24821548 2014
205
A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. 38
25852896 2014
206
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 38
23110775 2014
207
Antenatal Bartter syndrome. 38
24906263 2014
208
Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome. 38
24483758 2014
209
Interacting influence of diuretics and diet on BK channel-regulated K homeostasis. 38
24721651 2014
210
Nephrocalcinosis as adult presentation of Bartter syndrome type II. 38
24659592 2014
211
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome. 38
22854165 2014
212
Channelopathies. 38
24578711 2014
213
Hypokalaemic periodic paralysis in rural northern India--most have secondary causes. 38
24275360 2014
214
Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency. 38
24965226 2014
215
Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia. 38
25506941 2014
216
Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene. 38
24711981 2014
217
Inherited renal diseases. 38
25088262 2014
218
CLC channel function and dysfunction in health and disease. 38
25339907 2014
219
An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report. 38
25114583 2014
220
Mania-like symptoms in a patient with Bartter syndrome. 38
25093796 2014
221
Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report. 38
24377430 2013
222
Regulation of NKCC2 activity by inhibitory SPAK isoforms: KS-SPAK is a more potent inhibitor than SPAK2. 38
24133122 2013
223
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice. 38
24189473 2013
224
Pulmonary and gastric metastatic calcification due to milk-alkali syndrome: a case report. 38
28509300 2013
225
QT and JT dispersion and cardiac performance in children with neonatal Bartter syndrome: a pilot study. 38
23760993 2013
226
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression. 38
23703872 2013
227
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. 38
24381629 2013
228
Bartter syndrome: presentation in an extremely premature neonate. 38
23897314 2013
229
Heterozygous disruption of renal outer medullary potassium channel in rats is associated with reduced blood pressure. 38
23753405 2013
230
[Difficulties in the differential diagnosis of hyponatremia presenting with severe neuropsychiatric symptoms]. 38
23895992 2013
231
Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature. 38
23484775 2013
232
RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies. 38
23389821 2013
233
Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism. 38
23856265 2013
234
Translational read-through of a nonsense mutation causing Bartter syndrome. 38
23772144 2013
235
Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II. 38
23782368 2013
236
Nephrocalcinosis and placental findings in neonatal bartter syndrome. 38
23943704 2013
237
Inherited secondary nephrogenic diabetes insipidus: concentrating on humans. 38
23364801 2013
238
Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features. 38
23538352 2013
239
Gitelman syndrome combined with complete growth hormone deficiency. 38
24904849 2013
240
[Hyponatremia]. 38
22948253 2013
241
A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene. 38
23550235 2013
242
Adenylyl cyclase 6 enhances NKCC2 expression and mediates vasopressin-induced phosphorylation of NKCC2 and NCC. 38
23123217 2013
243
Excessive signal transduction of gain-of-function variants of the calcium-sensing receptor (CaSR) are associated with increased ER to cytosol calcium gradient. 38
24244430 2013
244
Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis. 38
23580805 2013
245
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm. 38
24058621 2013
246
Bartter syndrome presenting as poor weight gain and dehydration in an infant. 38
23301403 2012
247
Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation. 38
23164417 2012
248
A patient with cystinosis presenting like bartter syndrome and review of literature. 38
23431081 2012
249
Multiple evolutionarily conserved Di-leucine like motifs in the carboxyl terminus control the anterograde trafficking of NKCC2. 38
23105100 2012
250
Treating hearing loss in patients with infantile Bartter syndrome. 38
22965860 2012
251
Bartter syndrome and growth hormone deficiency: three cases. 38
22707176 2012
252
Gitelman's syndrome presenting with hypocalcaemia, basal ganglia calcification and periodic paralysis. 38
23112035 2012
253
Paradoxical hypertension and salt wasting in Type II Bartter syndrome. 38
26069767 2012
254
Classic Bartter syndrome: a rare cause of failure to thrive in a child. 38
22744244 2012
255
Genetic basis of Bartter syndrome in Korea. 38
21865213 2012
256
Na+-K+-2Cl- cotransporter type 2 trafficking and activity: the role of interacting proteins. 38
22211456 2012
257
Application of molecular biology at the approach of Bartter's syndrome: case report. 38
22441188 2012
258
Status epilepticus as the only presentation of the neonatal Bartter syndrome. 38
22470874 2012
259
Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. 38
22245519 2012
260
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. 38
21932010 2012
261
Understanding Bartter syndrome and Gitelman syndrome. 38
22282380 2012
262
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. 38
23569535 2012
263
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. 38
22876563 2012
264
Antenatal bartter syndrome: a review. 38
22518185 2012
265
[Bartter syndrome: a new therapeutic approach]. 38
22856410 2011
266
C1q nephropathy in a patient with Gitelman syndrome. 38
25984202 2011
267
Molecular regulation of NKCC2 in the thick ascending limb. 38
21900458 2011
268
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. 38
21937999 2011
269
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. 38
21705784 2011
270
Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness. 38
21479528 2011
271
Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea. 38
22070007 2011
272
A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels. 38
21431899 2011
273
Acetyl salicylic acid treatment in neonatal Bartter syndrome--a commentary letter. 38
21626220 2011
274
Acetyl salicylic acid treatment in neonatal Bartter syndrome. 38
21553351 2011
275
Generation and analyses of R8L barttin knockin mouse. 38
21593186 2011
276
[Acquired Gitelman syndrome associated with Sjögren's syndrome and scleroderma]. 38
20888090 2011
277
[Adult Bartter syndrome causing spinal column osteoporosis fracture: a case report]. 38
21928686 2011
278
[An asymptomatic chronic hypokalaemia]. 38
21896412 2011
279
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. 38
21805424 2011
280
Bartter syndrome revealed at adult age by recurrent nephrolithiasis, associated with hypertension and metabolic syndrome. 38
21484701 2011
281
An unusual cause of failure to thrive in a child. 38
21668051 2011
282
[Clinical analysis of 6 cases of Bartter syndrome]. 38
21418853 2011
283
Secretory carrier membrane protein 2 regulates exocytic insertion of NKCC2 into the cell membrane. 38
21205824 2011
284
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome. 38
20127218 2011
285
[An analysis of hyperinsulinemia in Bartter syndrome]. 38
21418833 2011
286
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 38
21269598 2011
287
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis. 38
21541222 2011
288
DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening. 38
21631963 2011
289
Cystinosis presenting with findings of Bartter syndrome. 38
21750641 2011
290
Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis. 38
21359059 2011
291
Primary molecular disorders and secondary biological adaptations in bartter syndrome. 38
21941653 2011
292
Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. 38
21575321 2011
293
Calcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1. 38
21084311 2011
294
Case report: heavy metal burden presenting as Bartter syndrome. 38
21194246 2010
295
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. 38
21332001 2010
296
Drosophila provides rapid modeling of renal development, function, and disease. 38
20926630 2010
297
The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. 38
20810575 2010
298
Gitelman syndrome due to p.A204T mutation in CLCNKB gene. 38
20931281 2010
299
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. 38
20680351 2010
300
Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights. 38
21340151 2010
301
A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III. 38
21162973 2010
302
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. 38
20956791 2010
303
A case of antenatal Bartter syndrome with sensorineural deafness. 38
21158220 2010
304
Long-term follow-up of patients with Bartter syndrome type I and II. 38
20219833 2010
305
A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels. 38
20805576 2010
306
Identification of sites responsible for the potentiating effect of niflumic acid on ClC-Ka kidney chloride channels. 38
20649569 2010
307
A case of Bartter syndrome type I with atypical presentations. 38
21189980 2010
308
Pregnancy in a patient with gouty arthritis secondary to pseudo-Bartter syndrome. 38
20661067 2010
309
A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. 38
20127383 2010
310
Hypokalaemia and failure to thrive: report of a misleading onset. 38
20412406 2010
311
Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review. 38
20033223 2010
312
[Childhood genetic renal diseases in southern Israel]. 38
20684172 2010
313
Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis. 38
19915517 2010
314
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. 38
19807735 2010
315
[Pseudo-Bartter syndrome--2 cases]. 38
20687389 2010
316
Antenatal Bartter syndrome: analysis of two cases with placental findings. 38
20450264 2010
317
Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature. 38
20199192 2010
318
Gitelman syndrome: first report of genetically established diagnosis in Greece. 38
20411059 2010
319
Physiology and pathophysiology of ClC-K/barttin channels. 38
21423394 2010
320
Physiological genomics identifies estrogen-related receptor alpha as a regulator of renal sodium and potassium homeostasis and the renin-angiotensin pathway. 38
19901197 2010
321
Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases. 38
20733335 2010
322
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. 38
19861545 2009
323
Zeta-crystallin mediates the acid pH-induced increase of BSC1 cotransporter mRNA stability. 9
19657324 2009
324
Concurrence of Bartter syndrome and minimal change nephrotic syndrome. 38
19781336 2009
325
Amikacin-induced type 5 Bartter-like syndrome with severe hypocalcemia. 9
19884751 2009
326
Distal potassium handling based on flow modulation of maxi-K channel activity. 9
19448535 2009
327
Thick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSR. 38
18982348 2009
328
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 38
19096086 2009
329
Analysis of claudin genes in pediatric patients with Bartter's syndrome. 9
19538297 2009
330
Comment on: Bartter syndrome and cholelithiasis in an infant: is this a mere coincidence? (Eur J Pediatr 2008;167(1):109-110). 38
18670788 2009
331
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. 38
18830715 2009
332
Autopsy report on pseudo-Bartter syndrome with renal calcification induced by diuretics and diet pills. 38
21686346 2009
333
V2R mutations and nephrogenic diabetes insipidus. 38
20374732 2009
334
The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating. 38
19221509 2009
335
[Neonatal Bartter syndrome's special features in very premature newborns]. 38
19038535 2009
336
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. 38
18833191 2008
337
An improved terminology and classification of Bartter-like syndromes. 38
18695706 2008
338
Vasodilatory shock during cardiopulmonary bypass in Bartter syndrome. 38
18922436 2008
339
Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels. 38
18620882 2008
340
Severe failure to thrive in infant. 38
18539871 2008
341
Female ROMK null mice manifest more severe Bartter II phenotype on renal function and higher PGE2 production. 38
18579648 2008
342
Neonatal pseudo-Bartter syndrome due to maternal eating disorder. 38
18756276 2008
343
Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis. 38
19014056 2008
344
Gitelman syndrome. 38
18667063 2008
345
Diagnosis of hypokalemia: a problem-solving approach to clinical cases. 38
19377223 2008
346
Primary and secondary small cell neuroendocrine carcinoma of the larynx: a review. 38
18302254 2008
347
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 9
18328986 2008
348
[Pseudo-Bartter syndrome in a case of cystic fibrosis caused by C1529G and G3978A compound heterozygosity]. 38
18258563 2008
349
An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients. 38
17323076 2008
350
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. 38
17899212 2008
351
Bartter syndrome presenting as poor weight gain and abdominal mass in an infant. 38
18800266 2008
352
Bartter syndrome and cholelithiasis in an infant: is this a mere coincidence? 38
18038148 2008
353
[Polyhydramnios, prematurity, dystrophy, polyuria, constipation, nephrocalcinosis and renal tumor: presentation of a classic tubulopathy]. 38
18172829 2008
354
Cystic fibrosis in India. 38
17968991 2007
355
Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8. 38
17853456 2007
356
Etiology of nephrocalcinosis in northern Indian children. 38
17285294 2007
357
Side-effects of long-term prostaglandin E(1) treatment in neonates. 38
17532831 2007
358
A thiazide test for the diagnosis of renal tubular hypokalemic disorders. 38
17699451 2007
359
Mechanism of interaction of niflumic acid with heterologously expressed kidney CLC-K chloride channels. 9
17659402 2007
360
[Hoarseness as the initial manifestation of Bartter syndrome in a case]. 38
17706081 2007
361
The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2). 38
17186942 2007
362
[Antenatal Bartter syndrome]. 38
17323461 2007
363
Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report. 38
17228161 2007
364
Computational model of vectorial potassium transport by cochlear marginal cells and vestibular dark cells. 38
17005601 2007
365
Modified oral rehydration therapy in a case with cystic fibrosis. 38
17479655 2007
366
Expression and function of CLC and cystic fibrosis transmembrane conductance regulator chloride channels in renal epithelial tubule cells: pathophysiological implications. 38
17477025 2007
367
C1q nephropathy in association with Gitelman syndrome: a case report. 38
16955279 2006
368
[Bartter syndrome--a rare cause of severe polyhydramnios]. 38
17217871 2006
369
Nephrotoxicity with cyclooxygenase 2 inhibitor use in children. 38
16955281 2006
370
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure. 9
17275579 2006
371
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. 38
17059986 2006
372
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome. 38
16902263 2006
373
The calcium-sensing receptor and related diseases. 38
17117288 2006
374
Neonatal Bartter syndrome. 38
16951440 2006
375
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. 38
16807401 2006
376
Pseudo-Bartter syndrome in a pregnant mother and her fetus. 38
16773420 2006
377
Genetic kidney diseases in the pediatric population of southern Israel. 38
16773401 2006
378
Prevalence and clinical features of cystic fibrosis with pseudo-Bartter syndrome. 38
16709338 2006
379
Structural and functional analysis of the putative pH sensor in the Kir1.1 (ROMK) potassium channel. 38
16641935 2006
380
[Bartter syndrome and Gitelman syndrome]. 38
16774064 2006
381
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 38
16572343 2006
382
[Calcium sensing receptor: physiology and pathology]. 38
16596058 2006
383
"Bartter-like" phenotype in Kearns-Sayre syndrome. 38
16382326 2006
384
Expression of CLC-K chloride channels in the rat cochlea. 9
16466872 2006
385
Case of Bartter syndrome presenting with hypokalemic periodic paralysis. 38
16901432 2006
386
[Bartter's syndrome and Gitelman's syndrome: Pathogenesis, pathophysiology, and therapy]. 9
16523943 2006
387
Paraneoplastic syndromes in patients with primary malignancies of the head and neck. Four cases and a review of the literature. 38
15986184 2006
388
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome. 38
16306206 2005
389
Elevated aldosterone in amniotic fluid and maternal blood has diagnostic potential in pregnancies complicated with a fetus of Bartter syndrome. 38
16260879 2005
390
Bone mineral density and bone turnover in patients with Bartter syndrome. 38
15942790 2005
391
Chloride channel diseases resulting from impaired transepithelial transport or vesicular function. 38
16075045 2005
392
Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: a model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. 38
15976003 2005
393
Clinical features and treatment approaches in cystic fibrosis with pseudo-Bartter syndrome. 38
15949200 2005
394
Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. 38
15717167 2005
395
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. 9
15687331 2005
396
Abnormal captopril scintigraphy in Bartter syndrome. 38
15764890 2005
397
A new mutation in two siblings with cystinosis presenting with Bartter syndrome. 38
15583946 2005
398
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models. 38
15709978 2005
399
[Bartter disease with neurosensitive deafness (Bartter type IV). A clinical entity described 10 years ago]. 38
16514898 2005
400
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease. 38
15338397 2004
401
Potassium handling in health and disease: lessons from inherited tubulopathies. 38
16429107 2004
402
[Congenital hypomagnesemia]. 38
15615242 2004
403
Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. 38
15531551 2004
404
Identification and proteomic profiling of exosomes in human urine. 38
15326289 2004
405
Reversible renal medullary hyperechogenicity in neonatal hypernatremic dehydration. 38
15206035 2004
406
Bartter syndrome: benefits and side effects of long-term treatment. 38
15206026 2004
407
Pharmacotyping of hypokalaemic salt-losing tubular disorders. 38
15283765 2004
408
The role of cyclooxygenases and prostanoid receptorsin furosemide-like salt losing tubulopathy: the hyperprostaglandin E syndrome. 38
15283766 2004
409
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. 38
15148291 2004
410
[Bartter's syndrome]. 38
15518434 2004
411
Inherited Na transport disorders: the taming of the syndromes. 38
15021199 2004
412
[Bartter syndrome--case report]. 38
15517937 2004
413
Diseases associated with the extracellular calcium-sensing receptor. 9
15200151 2004
414
Primer on clinical acid-base problem solving. 38
15069420 2004
415
ROMK is required for expression of the 70-pS K channel in the thick ascending limb. 38
14600033 2004
416
Induction of microsomal prostaglandin E2 synthase in the macula densa in children with hypokalemic salt-losing tubulopathies. 38
14630996 2004
417
Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family. 38
12739168 2004
418
Bartter's and Gitelman's syndromes: from gene to clinic. 9
15056980 2004
419
[Tubolopaties associated to hypokalemia]. 9
15356851 2004
420
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 38
14722619 2004
421
Angiotensin II reduces calcium uptake into bone. 38
14648327 2004
422
[Prenatal Bartter's syndrome. Report of two cases]. 38
15067902 2003
423
Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. 9
12911530 2003
424
[Diagnosis and etiology of hyponatremia]. 38
14626645 2003
425
Pseudo-Bartter syndrome in a neonate on prostaglandin infusion. 38
12811550 2003
426
[Bartter' syndrome: five cases with different clinical expression]. 38
14557850 2003
427
[Two cases with Bartter syndrome who had diarrhea as symptom of onset]. 38
14746694 2003
428
Genetics of calcium-sensing--regulation of calcium levels in the body. 9
12810195 2003
429
Effect of indomethacin on amniotic fluid prostaglandin and aldosterone levels in a fetus with Bartter syndrome. 38
12749044 2003
430
Neonatal Bartter syndrome with unilateral multicystic dysplastic kidney disease. 38
12700968 2003
431
Renal disease and mitochondrial genetics. 38
12768079 2003
432
Central pontine myelinolysis associated with hypokalaemia in anorexia nervosa. 38
12588925 2003
433
[Bartter syndrome or renal tubular acidosis?]. 38
15320528 2003
434
[Bartter syndrome and it's neonatal type]. 38
12761427 2003
435
Absence of small conductance K+ channel (SK) activity in apical membranes of thick ascending limb and cortical collecting duct in ROMK (Bartter's) knockout mice. 9
12130653 2002
436
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 9
12241879 2002
437
Human CLC-KB gene promoter drives the EGFP expression in the specific distal nephron segments and inner ear. 38
12138129 2002
438
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. 38
12081585 2002
439
CME review: sclerochoroidal calcification: the 2001 Harold Gifford Lecture. 38
12055456 2002
440
Barttin increases surface expression and changes current properties of ClC-K channels. 38
12111250 2002
441
Intrinsic sensitivity of Kir1.1 (ROMK) to glibenclamide in the absence of SUR2B. Implications for the identity of the renal ATP-regulated secretory K+ channel. 38
11927600 2002
442
[Primary molecular changes and secondary biological problems in Bartter and Gitelman syndrome]. 38
11998428 2002
443
Bartter syndrome type 3: an unusual cause of nephrolithiasis. 38
11865110 2002
444
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. 38
12008755 2002
445
[Bartter syndrome, Gitelman syndrome, Liddle syndrome]. 38
11838164 2002
446
Neonatal Bartter syndrome. 38
11876110 2002
447
[Function of the CLC chloride channels and their implication in human pathology]. 38
12087807 2002
448
Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. 38
11673754 2001
449
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. 38
11532083 2001
450
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. 38
11433084 2001
451
Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome. 9
11456284 2001
452
How can one apply rescue indomethacin therapy to a 1-month-old baby with antenatal Bartter syndrome in the case of severe vomiting? 38
11420924 2001
453
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. 38
11318951 2001
454
Ion channels in disease. 38
11317056 2001
455
[Bartter syndrome]. 38
11462428 2001
456
Adrenomedullin and nitrite levels in children with Bartter syndrome. 38
11149123 2000
457
Cystic fibrosis in Arabs: a prototype from Jordan. 38
11219165 2000
458
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. 9
11014932 2000
459
Hypokalemic coma with tetany following pseudo-Bartter syndrome. 38
11193286 2000
460
Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases. 38
10975308 2000
461
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. 38
10862633 2000
462
[Pharmacologic action of diuretics in the kidney]. 38
10894017 2000
463
Bartter syndrome in pregnancy. 38
10808022 2000
464
What is new about crystals other than monosodium urate? 38
10803754 2000
465
Bartter syndrome: an overview. 38
10787448 2000
466
[Five-case report of Bartter syndrome]. 38
12212191 2000
467
[Olfactory esthesioneuroma manifesting as Schwartz-Bartter syndrome]. 38
10763189 2000
468
Determination of free and glucuronide conjugated 20-hydroxyarachidonic acid (20-HETE) in urine by gas chromatography/negative ion chemical ionization mass spectrometry. 38
10841040 2000
469
Bartter syndrome in a neonate: early treatment with indomethacin. 38
10684365 2000
470
A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on K(+) conductance. 9
10878442 2000
471
[Bartter's syndromes]. 38
10617800 1999
472
Dose related growth response to indometacin in Gitelman syndrome. 38
10569969 1999
473
[Renal sodium transport abnormality: Gitelman's syndrome and renal sodium transporter]. 9
10639822 1999
474
pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. 38
10611379 1999
475
Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome. 9
10561140 1999
476
A mutation linked with Bartter's syndrome locks Kir 1.1a (ROMK1) channels in a closed state. 9
10532965 1999
477
Gitelman's syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome. 9
10546515 1999
478
Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome. 38
10419618 1999
479
Bartter's syndrome in Arabic children: review of 13 cases. 9
10365582 1999
480
Conjunctive effects of fibroblast growth factor and glycosaminoglycan on bone metabolism in neonatal bartter syndrome. 38
10231872 1999
481
[Pseudo-Bartter syndrome induced by uncontrollable vomiting]. 38
10230496 1999
482
Oligosaccharides released by hydrazinolysis from Tamm-Horsfall protein of various human donors contain similar high-mannose glycans. 9
10340432 1999
483
Composition of the sugar moiety of Tamm-Horsfall protein in patients with urinary diseases. 9
10436264 1999
484
Chloride channels in renal disease. 9
10561751 1999
485
[Idiopathic hypercalciuria in childhood]. 38
9879200 1998
486
Choroidal calcification in Bartter syndrome. 38
9822242 1998
487
[Pseudo-Bartter syndrome as a complication of an undiagnosed intestinal malrotation]. 38
9949600 1998
488
Non-steroidal anti-inflammatory drug-associated nephrotoxicity in Bartter syndrome. 38
9874326 1998
489
[What's new in pediatric nephrology?]. 38
9809157 1998
490
Bartter syndrome: unraveling the pathophysiologic enigma. 38
9727823 1998
491
The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. 9
9690036 1998
492
Humoral factor in children with neonatal Bartter syndrome reduces bone calcium uptake in vitro. 38
9686954 1998
493
Bartter and related syndromes: the puzzle is almost solved. 38
9655365 1998
494
[Atypical presentation and diagnosis of a case of Gitelman syndrome in the adult. How to distinguish between Bartter syndrome?]. 38
9608066 1998
495
The Na-K-Cl cotransporters. 9
9672238 1998
496
Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis. 38
9589375 1998
497
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies. 9
9519207 1998
498
Hypokalemia and the pathology of ion transport molecules. 9
9459287 1998
499
[Severe hyponatremia as diagnostic symptom of cystic fibrosis]. 38
9445920 1997
500
Syndrome of inappropriate antidiuretic hormone secretion associated with head neck cancers: review of the literature. 38
9342988 1997
501
[Sudden hyponatremia with unconsciousness. Case report and brief overview of the syndrome of inadequate antidiuresis (SIAD or Schwartz-Bartter syndrome]. 38
9441028 1997
502
Bartter syndrome and its neonatal variant. 38
9296528 1997
503
Bartter syndrome in Costa Rica: a description of 20 cases. 38
9203176 1997
504
Index of suspicion. Case 2. Severe developmental delay, polyuria, and nocturia strongly suggests Bartter syndrome. 38
8993068 1997
505
[Pseudo-Bartter syndrome]. 38
9277837 1997
506
Neonatal Bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure. 38
8971899 1996
507
[Abnormal serum uric acid level in endocrine disorders]. 38
8976120 1996
508
[Adverse effects of selective serotonin uptake inhibitors. Hyponatremia caused by Schwartz-Bartter syndrome]. 38
8984756 1996
509
Renal involvement in mitochondrial cytopathies. 38
8792408 1996
510
Increased urinary NO2-/NO3- and cyclic guanosine monophosphate levels in patients with Bartter's syndrome: relationship to vascular reactivity. 38
8651241 1996
511
[Chondrocalcinosis and Bartter syndrome]. 38
8657995 1996
512
[Bartter's syndrome: a case report of nephrocalcinosis]. 38
8766966 1996
513
[Bartter syndrome]. 38
8904240 1996
514
Severe hyperchloriduria-hyperkaliuria: a new congenital renal tubular abnormality? 38
8774509 1996
515
"Neonatal variant" of Bartter syndrome presenting with acidosis. 38
8611365 1996
516
[Synchronous bronchial cancers disclosed by Pierre Marie Bamberger syndrome and Schwartz-Bartter syndrome]. 38
9033926 1996
517
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. 9
8528245 1996
518
Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. 38
8585565 1995
519
Cystic fibrosis in Saudi Arabia: common and rare presentations. 38
8687200 1995
520
Concealed administration of frusemide simulating Bartter syndrome in a 4.5-year-old boy. 38
8747119 1995
521
Pre-pubertal growth in the hyperprostaglandin E syndrome. 38
8747113 1995
522
Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. 9
8544406 1995
523
Metabolic alkalosis with hypo-electrolytaemia or pseudo-Bartter syndrome as a presentation of cystic fibrosis in infancy. Discription of three cases. 38
8529696 1995
524
Molecular insights into the pathogenesis of inherited renal tubular disorders. 38
7600042 1995
525
Idiopathic carpotarsal osteolysis with Bartter's syndrome. A case report and review of the literature. 9
7641427 1995
526
[Pseudo-Bartter syndrome without hypopotassemia: a case with unilateral multicystic dysplastic kidney and congenital contralateral hyronephrosis]. 38
7900569 1995
527
[The Gitelman syndrome--a differential diagnosis of Bartter syndrome]. 38
7869998 1994
528
[Gitelman syndrome in children: true hypokalemia but false Bartter syndrome]. 38
7842074 1994
529
Prenatal diagnosis of Bartter syndrome. 38
7899275 1994
530
Understanding and treating Bartter syndrome. 38
8175928 1994
531
[What is and what is not Bartter syndrome?]. 38
8133712 1994
532
Gitelman versus classic Bartter syndrome. 38
8410532 1993
533
[Lambert-Eaton syndrome and Schwartz-Bartter syndrome in small cell bronchial cancer. Simultaneous manifestation of two paraneoplastic syndromes as an indication of a systemic malignant disease]. 38
8393129 1993
534
Oculocerebral hypopigmentation syndrome associated with Bartter syndrome. 38
8322826 1993
535
[Antenatal form of Bartter's syndrome]. 38
8457138 1993
536
[Bartter syndrome]. 38
8378619 1993
537
Unilateral juxtaglomerular hyperplasia, hyperreninism and hypokalaemia relieved by nephrectomy. 38
8450525 1993
538
[Neonatal variant of Bartter syndrome]. 38
1614456 1992
539
Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. 38
1340758 1992
540
Impaired water diuresis in a patient with pseudo-Bartter syndrome. 38
1535041 1992
541
The role of prostanoids in pediatric diseases employing mass spectrometric techniques. 38
1449829 1992
542
[The neonatal form of Bartter's syndrome: current findings in etiology and physiopathology]. 38
1413986 1992
543
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. 38
1731022 1992
544
Hyperechoic renal medullary pyramids in infants and children. 38
1887027 1991
545
[Paralysis, pain syndrome, consciousness disorders: on the neurologic manifestations of Bartter syndrome]. 38
1944715 1991
546
[Maternal Bartter syndrome and pregnancy]. 38
2047123 1991
547
Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis. 38
1867269 1991
548
Secretory function of the renin-aldosterone system in patients with anorexia nervosa. 38
2013346 1991
549
[Hypervasopressinism during tuberculous meningitis]. 38
1857833 1991
550
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. 38
2161456 1990
551
[A case from practice (175). Bartter syndrome]. 38
2339223 1990
552
[A case of type II Bartter syndrome with prominent bilateral kidney calculi]. 38
2324595 1990
553
Exogenous prostaglandin administration and pseudo-Bartter syndrome. 38
2612511 1989
554
Transient gall bladder dilatation associated with hypokalaemia in a patient with Bartter syndrome. 38
2686998 1989
555
Hyperechoic medulla of the kidneys. 38
2678257 1989
556
Hypercalciuria with Bartter syndrome: evidence for an abnormality of vitamin D metabolism. 38
2671327 1989
557
[Metabolic studies in 2 cases of chondrocalcinosis with hypomagnesemia]. 38
2672164 1989
558
Hypercalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin. 38
2655392 1989
559
Renin-positive granulated Goormaghtigh cells. Immunohistochemical and electron-microscopic studies on biopsies from patients with pseudo-Bartter syndrome. 38
2661003 1989
560
[Schwartz-Bartter syndrome as a complication of severe well water poisoning]. 38
3236665 1988
561
[Diuretic-induced pseudo-Bartter syndrome in idiopathic edema]. 38
3050748 1988
562
Trisomy 3 mosaicism in a patient with Bartter syndrome. 38
3385747 1988
563
Growth from birth to adulthood in a patient with the neonatal form of Bartter syndrome. 38
3153013 1988
564
[Secondary gout and pseudo-Bartter syndrome in females with laxative abuse]. 38
3657045 1987
565
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. 38
3153322 1987
566
Renal sonography in Bartter syndrome. 38
3295295 1987
567
Electrolyte composition of the amniotic fluid in Bartter syndrome. 38
3582718 1987
568
Prenatal diagnosis of Bartter syndrome. 38
2880209 1987
569
[Bartter syndrome and pseudo-Bartter syndrome--a case report]. 38
3515804 1986
570
Experimental water intoxication induced by dDAVP in rat, and its prevention with the vasopressin antagonist d(CH2)5Tyr(Et)VAVP. 38
3588172 1986
571
Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. 38
3863906 1985
572
Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review. 38
4006354 1985
573
The Schwartz-Bartter syndrome in patients admitted to a general surgical unit following trauma. 38
4008038 1985
574
[Pseudo-Bartter syndrome in diuretics abuse]. 38
3885386 1985
575
[The Schwartz-Bartter syndrome]. 38
4034215 1985
576
[Bartter syndrome]. 38
3969286 1985
577
Kinky hair disease with suspected pseudo-Bartter syndrome. 38
4061786 1985
578
Bartter syndrome in two siblings--antenatal and neonatal observations. 38
3888887 1985
579
HLA typing in bartter syndrome. 38
6595947 1984
580
[Bartter syndrome with persistent hyperreninemia associated with the fetal alcoholic syndrome. Case report]. 38
6398398 1984
581
Idiopathic hypercalciuria associated with hyperreninemia and high urinary prostaglandin E. 38
6389955 1984
582
[Schwartz-Bartter syndrome induced by chemotherapy]. 38
6330719 1984
583
[Schwartz-Bartter syndrome in cerebral apoplexy and indomethacin therapy]. 38
6515755 1984
584
Prevention of hyponatraemia and cerebral oedema by the vasopressin antagonist d/CH2/5Tyr/Et/VAVP in rats treated with pitressin tannate. 38
6730855 1984
585
[Extreme malnutrition secondary to a pseudo-Bartter syndrome]. 38
6739902 1984
586
Effect of the vasopressin antagonist d(CH2)5 Tyr(Et)VAVP on diuresis in rat. 38
6739224 1984
587
[The effect of vasopressin analogs on water metabolism]. 38
6666181 1983
588
[Inadequate ADH-secretion associated with bronchogenic carcinoma (Schwartz-Bartter syndrome)]. 38
6308592 1983
589
[Schwartz-Bartter syndrome following long-term DDAVP therapy in a patient with diabetes insipidus]. 38
6877810 1983
590
Inheritance of Bartter syndrome. 38
6859127 1983
591
[Simultaneous occurrence of the myasthenic syndrome and Schwarts-Bartter syndrome with small cell anaplastic carcinoma]. 38
6308867 1983
592
Serum inhibitor of phytohemagglutinin-induced lymphocyte proliferation in Bartter syndrome. 38
6572712 1983
593
Erythrocyte Na+ and K+ transport systems in children with Bartter syndrome: increase in passive sodium permeability. 38
6302364 1983
594
Radioimmunoassay of arginine-vasopressin in human plasma: development and clinical application. 38
6843047 1983
595
[Inappropriate ADH secretion syndrome (Schwartz and Bartter syndrome). Description of 2 cases with different pathogenesis]. 38
6818445 1982
596
[Schwartz-Bartter syndrome in subarachnoid hemorrhages caused by rupture of aneurysms of the anterior communicating artery]. 38
7164693 1982
597
[EEG changes in a patient with acute intermittent porphyria and a Schwartz-Bartter syndrome (SIADH)]. 38
6816570 1982
598
[Syndrome of inappropriate antidiuretic hormone secretion. A report of two cases with hyponatremia and hypouricemia]. 38
6293074 1982
599
Development of the Schwartz-Bartter syndrome after the administration of chlorpropamide and 1-deamino-8-D-arginine vasopressin. 38
7128548 1982
600
[Bartter syndrome]. 38
7109957 1982
601
[Value of superior vena cava angiography in Schwartz-Bartter syndrome (author's transl)]. 38
6285508 1982
602
[Central pontine myelinolysis and Schwartz-Bartter syndrome]. 38
7100873 1982
603
[Recurrent water intoxication during successive episodes of acute bronchitis: Schwartz-Bartter syndrome? (author's transl)]. 38
6285500 1982
604
Arachidonic acid metabolism, prostaglandins and the kidney. 38
7036731 1982
605
Disorders of distal nephron function. 38
6277192 1982
606
[The Schwartz-Bartter syndrome. Presentation of a case]. 38
6808646 1982
607
[Schwartz-Bartter syndrome during carcinoma of the pancreas (author's transl)]. 38
6272400 1981
608
[Schwartz-Bartter syndrome]. 38
6275506 1981
609
Hypokalemia, normal blood pressure, and hyperreninemia with hypoaldosteronism. 38
7024499 1981
610
[Therapy of Bartter syndrome with indomethacin]. 38
7017552 1981
611
[Development of Schwartz-Bartter syndrome following administration of chlorpropamide and 1-deamino-8-D-arginine vasopressin]. 38
7231991 1981
612
[Schwartz-Bartter syndrome with hypouricemia due to an anaplastic small cell tracheal tumor]. 38
7433079 1980
613
[Schwartz-Bartter syndrome. A short review and a case with prolonged course after brain injury]. 38
7445127 1980
614
[Sensitive radioimmunoassay for plasma arginine vasopressin (author's transl)]. 38
7235618 1980
615
[Inappropriate ADH syndrome (Schwartz-Bartter syndrome) in porphyria]. 38
7393755 1980
616
A patient with cystinosis presenting with the features of Bartter syndrome. 38
7405587 1980
617
[Radio-immunoassay of antidiuretic hormone. Choice of a technic of extraction, Normal and pathological values (author's transl)]. 38
7386947 1980
618
Effect of ibuprofen on growth in a child with Bartter syndrome. 38
448578 1979
619
[Consciousness disorders with inappropriate ADH-secretion (inappropriate antidiuretic hormone secretion, SIADH or Schwartz-Bartter syndrome)]. 38
462603 1979
620
[Schwartz-Bartter syndrome. Presentation of a sub-glottal small cell laryngeal carcinoma (author's transl)]. 38
507641 1979
621
[Furosemide abuse; a cause of pseudo Bartter syndrome (author's transl)]. 38
470225 1979
622
Idiopathic Schwartz-Bartter syndrome: an indication for screening fiberoptic bronchoscopy. 38
214501 1979
623
[Schwartz-Bartter syndrome in a patient with angioimmunoblastic lymphadenopathy]. 38
740531 1978
624
[A case of a Bartter syndrome-like disease with hyper-insulin, growth hormone secretion, impaired glucose tolerance and temporaly renal insufficiency (author's transl)]. 38
659944 1978
625
[Inappropriate secretion of antidiuretic hormone: true and false Schwartz-Bartter syndrome. Apropos of 2 cases]. 38
194321 1977
626
[Simultaneous liberation of vasopressin (ADH) and of neurophysins during nicotine perfusion in man]. 38
142574 1977
627
Indomethacin therapy in Bartter syndrome. 38
860644 1977
628
[Schwartz-Bartter syndrome]. 38
612737 1977
629
[Pseudo-Bartter syndrome--a case study]. 38
987306 1976
630
Letter: Bartter syndrome. 38
946502 1976
631
[Cerebral salt loss as Schwartz-Bartter-syndrome in childhood (author's transl)]. 38
1256453 1976
632
[Acute polyradiculitis. Experiences in an intensive care unit]. 38
1251157 1976
633
The pathophysiology of Bartter syndrome. 38
1242464 1975
634
Radioimmunoassay of (8-arginine)-vasopressin. II. Application to determination of antidiuretic hormone in urine. 38
1242562 1975
635
Bartter syndrome. Typical facies and normal plasma volume. 38
1190144 1975
636
[Water intoxication]. 38
1224726 1975
637
[Case of Bartter syndrome]. 38
1170977 1975
638
[Letter: Thymus carcinoma and Schwartz-Bartter syndrome]. 38
1129116 1975
639
[Letter: S.E.D., A.P.U.D., Schwartz-Bartter syndrome, phacomatosis]. 38
805414 1975
640
[Small cell bronchial cancer, Schwartz-Bartter syndrome and hyperthyrocalcitonemia. Apropos of 2 cases]. 38
4376595 1974
641
[The Lambert-Eaton syndrome and the Schwartz-Bartter syndrome. A case of association revealing a pulmonary cancer]. 38
4438067 1974
642
Letter: Hyperthyrocalcitoninaemia, Schwartz-Bartter syndrome, and oat-cell carcinoma. 38
4133469 1974
643
[Pseudo-Bartter syndrome, a case report]. 38
4410612 1974
644
Six year follow-up of a child with Bartter syndrome. 38
4353310 1973
645
On the pathogenesis of the secondary hyperaldosteronism of the Bartter syndrome. 38
4522178 1973
646
[3 cases of Schwartz-Bartter syndrome during bronchial cancers observed in a department of general medicine in less than one year]. 38
4354550 1973
647
[Renal diabetes insipidus with hypokalemia, hyperaldosteronism, and increased plasma-renin activity (Bartter syndrome)]. 38
4715039 1973
648
[Schwartz-Bartter syndrome]. 38
4559813 1972
649
[The Bartter syndrome and the pseudo-Bartter syndrome]. 38
4338788 1972
650
[Schwartz-Bartter syndrome in a patient with pulmonary tuberculosis and tuberculous meningitis]. 38
5045337 1972
651
[Influence of pregnancy on the Bartter syndrome]. 38
5135948 1971
652
[Angiotensin resistance. Critical remarks on the so called Bartter syndrome]. 38
4332678 1971
653
Severe Bartter syndrome in blacks. 38
5095751 1971
654
[Excessive secretion of antidiuretic hormone (Schwartz-Bartter syndrome)]. 38
5133433 1971
655
[Combined lung cancer and various paraneoplastic syndromes (Lambert-Eaton syndrome, polymyositis and Schwartz-Bartter syndrome)]. 38
5150730 1971
656
[Association of a lung cancer and several paraneoplastic syndromes (Lambert-Eaton syndrome, polymyositis and Schwartz-Bartter syndrome)]. 38
5146737 1971
657
[A new case of the Schwartz Bartter syndrome, revealing a bronchial cancer]. 38
5117726 1971
658
Preponderance of Bartter syndrome among blacks. 38
5560577 1971
659
[Bartter's syndrome and pseudo-Bartter syndrome]. 38
4928556 1971
660
[Schwartz-Bartter syndrome: pharmacologic and histological study of 3 cases]. 38
5564523 1971
661
[Schwartz-Bartter syndrome]. 38
4935463 1971
662
[Various endocrine aspects of bronchopulmonary cancers (endocrine paraneoplastic syndromes other than the Schwartz-Bartter syndrome)]. 38
5564522 1971
663
[Structure and function of the juxtaglomerular apparatus. Quantitative light-optical studies on juxtaglomerular apparatus and macula densa of kidneys from patients with primary hyperaldosteronism, renal artery stenosis, pseudo-Bartter-syndrome and morbus Addison]. 38
5476816 1970
664
[Schwartz-Bartter syndrome and epidermoid cancer of the bronchi]. 38
5482067 1970
665
[The renin-angiotensin-aldosterone system in 2 cases of Schwartz-Bartter syndrome]. 38
4315166 1970
666
[A case of inappropriate secretion of antidiuretic hormone (Schwartz-Bartter syndrome)]. 38
5367553 1969
667
[Syndrome of inappropriate secretion of antidiuretic hormone (Schwartz-Bartter syndrome)]. 38
5367552 1969
668
An EEG study of water intoxication in the Schwartz-Bartter syndrome. 38
4182023 1969
669
[Schwartz-Bartter syndrome and endocrine disorders in broncho-pulmonary cancer]. 38
5398297 1969
670
[A further case of Schwartz-Bartter syndrome with neuro-psychic manifestations during the course of anaplastic bronchopulmonary cancer]. 38
5398120 1969
671
[Schwartz-Bartter syndrome of paraneoplastic origin]. 38
5404022 1969
672
[Differential diagnosis of the Bartter syndrome]. 38
4304633 1968
673
[Schwartz-Bartter syndrome with neurological and psychological manifestations in 3 cases of anaplastic neoplasm of the lung]. 38
5678927 1968
674
[Observations on the physiopathology of the regulation of aldosterone in the course Schwartz-Bartter Syndrome]. 38
4297739 1968
675
[A new case of the Schwartz-Bartter syndrome associated with anaplastic carcinoma of the bronchus. Physiopathological problems concerning hyponatremia, natriuresis and te regulation of aldosterone secretion]. 38
5596400 1967
676
[Familial proteinuria of the tubular type with appearance of the Bartter syndrome in 1 of the members of the family: a new disease?]. 38
5596279 1967
677
[A further case of the Schwartz-Bartter syndrome. The mode of action of antidiuretic hormone]. 38
4293950 1967
678
[Water intoxication due to inadequate antidiuretic hormone secretion (Schwartz-Bartter syndrome) of idiopathic origin]. 38
5591981 1967
679
[Schwartz-Bartter syndrome due to a mediastino-pulmonary tumor. Assay of antidiuretic material and study of a natriuretic humoral factor]. 38
6080196 1967
680
[At the borderline of the Schwartz-Bartter syndrome. Antidiuresis after water and mannitol loading in 10 cases of cancer of the breast without hyponatremia]. 38
6061575 1967
681
[The Schwartz-Bartter syndrome: physiopathologic problems (apropos of a personal case)]. 38
6015814 1967
682
[A further case of Schwartz-Bartter syndrome with determination of antidiuretic activity]. 38
6059896 1967
683
[Attenuated Schwartz-Bartter syndrome and hypercalcemia in an epidermoid cancer of the bronchi with osseous metastases]. 38
6061576 1967
684
[Antidiuretic activity in the course of an anaplastic bronchial cancer (apropos of a case of Schwartz-Bartter syndrome)]. 38
5990269 1966
685
[Schwartz-Bartter syndrome. Inadequate secretion of antidiuretic hormone and lung cancer]. 38
6012198 1966
686
[Schwartz-Bartter syndrome]. 38
5911754 1966
687
[A further case of Schwartz-Bartter syndrome during bronchial cancer]. 38
5860373 1965
688
[Syndrome of inappropriate secretion of antidiuretic hormone (Schwartz-Bartter syndrome). Intratumoral secretion of arginine-vasopressin or of analogs of vasopressins?]. 38
5880006 1965
689
[Bartter syndrome. Vascular angiotensin II resistance with juxtaglomerular cellular hyperplasia and hyperaldosteronism]. 38
4284041 1965
690
[Origin of antidiuretic substances and an explanation of hypernatriuria in the Schwartz-Bartter syndrome]. 38
5849421 1965
691
[Anaplastic bronchial cancer and Schwartz-Bartter syndrome. (Apropos of 2 further cases)]. 38
5865705 1965
692
[APROPOS OF A CASE OF BRONCHIAL CARCINOMA AND SCHWARTZ-BARTTER SYNDROME. DEMONSTRATION OF AN ANTIDIURETIC ACTIVITY AT THE LEVEL OF THE TUMOR]. 38
14224371 1965
693
[Schwartz-Bartter syndrome during intermittent acute porphyria]. 38
5846677 1965
694
[THE SCHWARTZ-BARTTER SYNDROME: CARCINOMA OF THE LUNG WITH INADEQUATE SECRETION OF THE ANTIDIURETIC HORMONE]. 38
14337896 1964
695
[Bronchial carcinoma and abnormal secretion of antidiuretic hormone (Schwartz-Bartter syndrome)]. 38
5879114 1963
696
[HYPERNATRIURIA AND HYPONATREMIA WITH NORMAL HYDRATION: SCHWARTZ-BARTTER SYNDROME]. 38
14098386 1963

Variations for Bartter Disease

ClinVar genetic disease variations for Bartter Disease:

6 (showing 21, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BSND NM_057176.3(BSND): c.189C> T (p.Val63=) single nucleotide variant Conflicting interpretations of pathogenicity rs144505461 1:55470706-55470706 1:55005033-55005033
2 BSND NM_057176.3(BSND): c.63C> T (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs141611486 1:55464922-55464922 1:54999249-54999249
3 BSND NM_057176.3(BSND): c.102C> T (p.Tyr34=) single nucleotide variant Conflicting interpretations of pathogenicity rs141403253 1:55464961-55464961 1:54999288-54999288
4 BSND NM_057176.3(BSND): c.309G> C (p.Glu103Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200246335 1:55472706-55472706 1:55007033-55007033
5 BSND NM_057176.3(BSND): c.-25C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188418228 1:55464835-55464835 1:54999162-54999162
6 BSND NM_057176.3(BSND): c.696G> A (p.Arg232=) single nucleotide variant Uncertain significance rs886046424 1:55474034-55474034 1:55008361-55008361
7 BSND NM_057176.3(BSND): c.604G> A (p.Asp202Asn) single nucleotide variant Uncertain significance rs886046423 1:55473942-55473942 1:55008269-55008269
8 BSND NM_057176.3(BSND): c.216C> A (p.Ile72=) single nucleotide variant Uncertain significance rs755897497 1:55470733-55470733 1:55005060-55005060
9 BSND NM_057176.3(BSND): c.713T> A (p.Phe238Tyr) single nucleotide variant Uncertain significance rs752564097 1:55474051-55474051 1:55008378-55008378
10 BSND NM_057176.3(BSND): c.-175C> T single nucleotide variant Uncertain significance rs886046422 1:55464685-55464685 1:54999012-54999012
11 BSND NM_057176.3(BSND): c.-34G> A single nucleotide variant Uncertain significance rs768683733 1:55464826-55464826 1:54999153-54999153
12 BSND NM_057176.3(BSND): c.-156G> C single nucleotide variant Likely benign rs183925883 1:55464704-55464704 1:54999031-54999031
13 BSND NM_057176.3(BSND): c.*94A> G single nucleotide variant Likely benign rs80300625 1:55474395-55474395 1:55008722-55008722
14 BSND NM_057176.3(BSND): c.-241G> A single nucleotide variant Likely benign rs12069526 1:55464619-55464619 1:54998946-54998946
15 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 1:55474262-55474262 1:55008589-55008589
16 BSND NM_057176.3(BSND): c.127G> A (p.Val43Ile) single nucleotide variant Benign/Likely benign rs34561376 1:55464986-55464986 1:54999313-54999313
17 BSND NM_057176.3(BSND): c.177+11G> A single nucleotide variant Benign/Likely benign rs78904893 1:55465047-55465047 1:54999374-54999374
18 BSND NM_057176.3(BSND): c.-117T> C single nucleotide variant Benign rs2500340 1:55464743-55464743 1:54999070-54999070
19 BSND NM_057176.3(BSND): c.-70C> G single nucleotide variant Benign rs2500341 1:55464790-55464790 1:54999117-54999117
20 BSND NM_057176.3(BSND): c.*24A> C single nucleotide variant Benign rs6682884 1:55474325-55474325 1:55008652-55008652
21 BSND NM_057176.3(BSND): c.*175C> G single nucleotide variant Benign rs4339899 1:55474476-55474476 1:55008803-55008803

Expression for Bartter Disease

Search GEO for disease gene expression data for Bartter Disease.

Pathways for Bartter Disease

Pathways related to Bartter Disease according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Aldosterone-regulated sodium reabsorption hsa04960

Pathways related to Bartter Disease according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA CLCN5
2
Show member pathways
12.15 SLC12A3 SLC12A2 SLC12A1 CLCN5
3
Show member pathways
11.95 CLCNKB CLCNKA CLCN5 BSND
4
Show member pathways
11.59 CLCNKB CLCNKA CLCN5
5 10.56 SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCNKA BSND

GO Terms for Bartter Disease

Cellular components related to Bartter Disease according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.96 UMOD SLC12A3 SLC12A2 SLC12A1 KCNJ1 CLCNKB
2 integral component of plasma membrane GO:0005887 9.7 SLC12A3 SLC12A2 CLCNKB CLCNKA CLCN5 CASR
3 basolateral plasma membrane GO:0016323 9.54 UMOD CASR BSND
4 chloride channel complex GO:0034707 9.4 CLCNKB CLCNKA
5 plasma membrane GO:0005886 9.36 UMOD SLC12A3 SLC12A2 SLC12A1 REN KCNJ1
6 apical plasma membrane GO:0016324 9.35 UMOD SLC12A3 SLC12A2 SLC12A1 CASR
7 membrane GO:0016020 10.06 UMOD SLC12A3 SLC12A2 SLC12A1 REN KCNJ1

Biological processes related to Bartter Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA CLCN5
2 ion transport GO:0006811 9.91 SLC12A3 SLC12A2 SLC12A1 KCNJ1 CLCNKB CLCNKA
3 ion transmembrane transport GO:0034220 9.73 SLC12A1 KCNJ1 CLCNKB CLCNKA CLCN5 BSND
4 regulation of ion transmembrane transport GO:0034765 9.71 KCNJ1 CLCNKB CLCNKA
5 potassium ion transport GO:0006813 9.7 SLC12A2 SLC12A1 KCNJ1
6 sodium ion transport GO:0006814 9.69 SLC12A3 SLC12A2 SLC12A1
7 sodium ion transmembrane transport