MCID: RNL045
MIFTS: 43

Renal Tubular Acidosis, Distal

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal

MalaCards integrated aliases for Renal Tubular Acidosis, Distal:

Name: Renal Tubular Acidosis, Distal 53
Distal Renal Tubular Acidosis 59 37 29 55 73
Familial Distal Primary Acidosis 59
Renal Tubular Acidosis Type 1 59
Classic Rta 59
Drta 59

Characteristics:

Orphanet epidemiological data:

59
distal renal tubular acidosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA18
UMLS via Orphanet 74 C1704380 C0259810
ICD10 via Orphanet 34 N25.8
KEGG 37 H00428
UMLS 73 C1704380

Summaries for Renal Tubular Acidosis, Distal

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 18Disease definitionDistal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.EpidemiologyPrevalence of dRTA is unknown but is often underreported. The hereditary forms of dRTA are more prevalent in areas of high consanguinity (Arabic peninsula and North Africa) whereas acquired dRTA has been reported more frequently in Western countries.Clinical descriptionDisease onset can occur at any age, depending on cause. Hereditary dRTA subtypes include autosomal dominant (AD) and autosomal recessive (AR) dRTA (see these terms). A recessive subtype of dRTA associated with anemia has also been described in Southeast Asia. AR forms are frequently diagnosed in infants and young children. AD dRTA is mostly diagnosed in adolescents and young adults. Patients with dRTA can be asymptomatic or can present with polyuria, polydipsia, weakness and fatigue (symptoms associated with hypokalemia). Failure to thrive, rickets, stunting of growth (seen in children) and osteomalacia or osteopenia (seen in adults) are a result of urinary calcium wastage and a loss of calcium salts from the bones. Hypercalciuria, nephrolithiasis and nephrocalcinosis usually occur. Low plasma potassium levels in those with the classic form of dRTA can also cause cardiac arrhythmias, paralysis and even death. In the recessive forms of dRTA, progressive and irreversible deafness often occurs.EtiologydRTA can be acquired or inherited. AD dRTA is usually due to mutations in the SLC4A1 gene (17q21.31). Mutations in the ATP6V1B1 gene (2p13) or ATP6V0A4 gene (7q34) are responsible for AR dRTA with deafness. AR dRTA without deafness or late onset deafness has been mainly described in patients with mutations in the ATP6V0A4 gene but overlap does exist in that some patients with this mutation develop deafness and others do not. Acquired forms of dRTA are thought to be caused by autoimmune diseases such as Sjögren syndrome (see this term) or secondary to other conditions like sickle cell anemia, systemic lupus erythematosus (see these terms), chronic obstructive uropathy, or post-renal transplantation.Diagnostic methodsThe disease is characterized by hyperchloremic metabolic acidosis. The inability to lower urine pH below 5.5 and a positive urine anion gap during spontaneous metabolic acidosis is indicative of dRTA. Provocative tests for further diagnosis include the NH4Cl acidifying test and the furosemide test. Patients with dRTA also show renal potassium wasting except in the hyperkalemic type of dRTA. Molecular genetic testing for one of the causal genetic mutations can also confirm diagnosis.Differential diagnosisThe main differential diagnosis is proximal RTA (see this term) along with other causes of chronic metabolic acidosis (i.e. diarrhea).Antenatal diagnosisAntenatal diagnosis is rarely performed.Genetic counselingThe inherited forms of dRTA are inherited autosomal dominantly or recessively and genetic counseling is possible.Management and treatmentAlkali therapy is the standard treatment (to achieve normal serum bicarbonate levels). Patients are usually given sodium bicarbonate or sodium citrate. Children require very high doses (4-8 meq/kg/day) whereas adults need much lower doses (1-2 meq/kg/day). Potassium replacement is also necessary in hypokalemic patients and potassium citrate is usually recommended. The dose depends on the severity of hypokalemia. Hyperkalemic types require low dietary potassium intake and other therapies.PrognosisAll forms of dRTA are chronic and may have significant effects on growth and development. With treatment there is no decrease in life expectancy and renal failure is uncommon but progressive chronic kidney disease may sometimes occur if there are recurrent kidney stones and when nephrocalcinosis is very severe.Visit the Orphanet disease page for more resources.

MalaCards based summary : Renal Tubular Acidosis, Distal, also known as distal renal tubular acidosis, is related to renal tubular acidosis, distal, autosomal recessive and renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Collecting duct acid secretion and Phagosome. The drugs Acetazolamide and Potassium Citrate have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and bone, and related phenotype is renal/urinary system.

Wikipedia : 76 Distal renal tubular acidosis (dRTA) or Type 1 renal tubular acidosis (RTA) is the classical form of... more...

Related Diseases for Renal Tubular Acidosis, Distal

Graphical network of the top 20 diseases related to Renal Tubular Acidosis, Distal:



Diseases related to Renal Tubular Acidosis, Distal

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal

MGI Mouse Phenotypes related to Renal Tubular Acidosis, Distal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ATP6V0A4 ATP6V1B1 CA2 SLC4A1

Drugs & Therapeutics for Renal Tubular Acidosis, Distal

Drugs for Renal Tubular Acidosis, Distal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
2
Potassium Citrate Approved, Investigational, Vet_approved Not Applicable
3
Furosemide Approved, Vet_approved 54-31-9 3440
4
Fludrocortisone Approved, Investigational 127-31-1 31378
5
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
6 diuretics Not Applicable
7 Respiratory System Agents Not Applicable
8 Chelating Agents Not Applicable
9 Natriuretic Agents Not Applicable
10 Anticoagulants Not Applicable
11 Expectorants Not Applicable
12 Anticonvulsants Not Applicable
13 Carbonic Anhydrase Inhibitors Not Applicable
14 Calcium, Dietary Not Applicable
15 Sodium Potassium Chloride Symporter Inhibitors
16 Anti-Inflammatory Agents
17 Citrate Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514
2 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Not Applicable Potassium Citrate;Acetazolamide
3 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Recruiting NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
4 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460

Search NIH Clinical Center for Renal Tubular Acidosis, Distal

Genetic Tests for Renal Tubular Acidosis, Distal

Genetic tests related to Renal Tubular Acidosis, Distal:

# Genetic test Affiliating Genes
1 Distal Renal Tubular Acidosis 29

Anatomical Context for Renal Tubular Acidosis, Distal

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal:

41
Testes, Kidney, Bone, Thyroid, Liver, Colon

Publications for Renal Tubular Acidosis, Distal

Articles related to Renal Tubular Acidosis, Distal:

(show top 50) (show all 331)
# Title Authors Year
1
Distal renal tubular acidosis in two children with acquired hypothyroidism. ( 29716758 )
2018
2
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families. ( 29573245 )
2018
3
Distal renal tubular acidosis in SjAPgren's syndrome. ( 29657223 )
2018
4
Sjogren's with distal renal tubular acidosis complicating pregnancy. ( 29361865 )
2018
5
Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review. ( 29134448 )
2018
6
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. ( 29437164 )
2018
7
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. ( 29725771 )
2018
8
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
9
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. ( 29627839 )
2018
10
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. ( 29024829 )
2018
11
Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice. ( 29384414 )
2018
12
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. ( 28994037 )
2017
13
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
14
Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )
2017
15
Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. ( 28775128 )
2017
16
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. ( 28233610 )
2017
17
I^-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation. ( 28646128 )
2017
18
Pathological fracture in SjAPgren's syndrome due to distal renal tubular acidosis. ( 28971585 )
2017
19
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. ( 29202719 )
2017
20
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. ( 28638614 )
2017
21
Clinical and molecular aspects of distal renal tubular acidosis in children. ( 28188436 )
2017
22
Transient Distal Renal Tubular Acidosis in Organophosphate Poisoning. ( 28400690 )
2017
23
New Findings on the Pathogenesis of Distal Renal Tubular Acidosis. ( 29344504 )
2017
24
Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers. ( 28775126 )
2017
25
[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation]. ( 28407820 )
2017
26
Erratum: A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. ( 27994869 )
2016
27
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
28
Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report. ( 27866471 )
2016
29
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. ( 27247958 )
2016
30
Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene. ( 27140593 )
2016
31
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. ( 27090423 )
2016
32
Distal Renal Tubular Acidosis Associated with Celiac Disease and Thyroiditis. ( 27889732 )
2016
33
Transient distal renal tubular acidosis following hump nosed viper bite: Two cases from Sri Lanka. ( 27752013 )
2016
34
Sjogren's syndrome presenting as Hypokalemic paralysis due to distal renal tubular acidosis. ( 27728182 )
2016
35
The need for genetic study to diagnose some cases of distal renal tubular acidosis. ( 27493007 )
2016
36
A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. ( 27274828 )
2016
37
Band 3 null(VIENNA) , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. ( 27718309 )
2016
38
A case of multiple myeloma presenting as a distal renal tubular acidosis with extensive bilateral nephrolithiasis. ( 26998308 )
2016
39
Primary sclerosing cholangitis: a new cause of distal renal tubular acidosis. ( 27994859 )
2016
40
Selective screening for distal renal tubular acidosis in recurrent kidney stone formers: initial experience and comparison of the simultaneous furosemide and fludrocortisone test with the short ammonium chloride test. ( 26961999 )
2016
41
Bone Mineral Density in SjAPgren Syndrome Patients with and Without Distal Renal Tubular Acidosis. ( 26873478 )
2016
42
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance. ( 28005240 )
2016
43
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. ( 26208211 )
2015
44
Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation. ( 25579729 )
2015
45
Decreased Renal Expression of H(+)-ATPase and Pendrin in a Patient with Distal Renal Tubular Acidosis Associated with SjAPgren's Syndrome. ( 26568006 )
2015
46
A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran. ( 25957428 )
2015
47
Hyperammonemia in Distal Renal Tubular Acidosis: A New Case and Review of the Literature. ( 26138379 )
2015
48
Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness. ( 25517796 )
2015
49
Hypokalemia-Induced Rhabdomyolysis as a result of Distal Renal Tubular Acidosis in a Pregnant Woman: A Case Report and Literature Review. ( 26788388 )
2015
50
Clinical evaluation of chinese patients with primary distal renal tubular acidosis. ( 25832932 )
2015

Variations for Renal Tubular Acidosis, Distal

Expression for Renal Tubular Acidosis, Distal

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal.

Pathways for Renal Tubular Acidosis, Distal

Pathways related to Renal Tubular Acidosis, Distal according to KEGG:

37
# Name Kegg Source Accession
1 Collecting duct acid secretion hsa04966

GO Terms for Renal Tubular Acidosis, Distal

Cellular components related to Renal Tubular Acidosis, Distal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.55 AMBP ATP6V0A4 ATP6V1B1 CA2 SLC4A1
2 apical part of cell GO:0045177 9.32 ATP6V0A4 CA2
3 microvillus GO:0005902 9.26 ATP6V1B1 CA2
4 basolateral plasma membrane GO:0016323 9.13 ATP6V1B1 CA2 SLC4A1
5 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V0A4 ATP6V1B1

Biological processes related to Renal Tubular Acidosis, Distal according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 ATP6V0A4 ATP6V1B1 SLC4A1
2 sensory perception of sound GO:0007605 9.51 ATP6V0A4 ATP6V1B1
3 proton transmembrane transport GO:1902600 9.48 ATP6V0A4 ATP6V1B1
4 ossification GO:0001503 9.46 ATP6V0A4 ATP6V1B1
5 insulin receptor signaling pathway GO:0008286 9.43 ATP6V0A4 ATP6V1B1
6 bicarbonate transport GO:0015701 9.4 CA2 SLC4A1
7 regulation of intracellular pH GO:0051453 9.37 CA2 SLC4A1
8 excretion GO:0007588 9.32 ATP6V0A4 ATP6V1B1
9 transferrin transport GO:0033572 9.26 ATP6V0A4 ATP6V1B1
10 ATP hydrolysis coupled proton transport GO:0015991 9.16 ATP6V0A4 ATP6V1B1
11 phagosome acidification GO:0090383 8.96 ATP6V0A4 ATP6V1B1
12 regulation of pH GO:0006885 8.62 ATP6V0A4 ATP6V1B1

Molecular functions related to Renal Tubular Acidosis, Distal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 8.62 ATP6V0A4 ATP6V1B1

Sources for Renal Tubular Acidosis, Distal

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