Nephronophthisis

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Disease Ontology 12 DOID:12712 KEGG 38 H00537 H02012 NCIt 51 C123200 ICD10 34 Q61.5 ICD10 via Orphanet 35 Q61.5

UMLS via Orphanet 75 C0687120 Orphanet 60 ORPHA655 SNOMED-CT via HPO 70 165397008 236423003 271737000 421689001 42399005 more UMLS 74 C0687120 C2939174

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 655Disease definitionNephronophthisis is a chronic tubulointerstitial nephropathy that progresses to end-stage renal failure.EpidemiologyPrevalence is 1/100 000 individuals.Clinical descriptionThe disease is both clinically and genetically heterogeneous. Three main clinical forms have been described. Juvenile nephronophthisis, the most frequent form, progresses to end-stage renal failure before the age of 15 and is responsible for 15% of cases of childhood end-stage renal failure. The first signs appear after the age of 2 with a urine concentration defect responsible for polyuria and polydipsia, failure to thrive and a progressive deterioration of renal function without signs of glomerular disease. Renal ultrasonography reveals normal-sized kidneys. Histological lesions affect the tubular basement membranes, which are irregularly thickened and multilayered, or thinned. Interstitial fibrosis is also present. Some children present with extrarenal symptoms: tapetoretinal degeneration (as in Senior-Loken syndrome, see this term), intellectual deficiency, cerebellar ataxia, bone anomalies or liver involvement. Infantile nephronophthisis is a chronic tubulointerstitial nephropathy with cortical microcysts progressing to end-stage renal failure before age 5. Finally, the late-onset form of nephronophthisis is a rarer form of the disease. Clinical and histological signs are similar to those of the juvenile form, but the age at which renal failure reaches a terminal stage occurs later than in the juvenile form, at a mean age of 19 years.EtiologyFive genes associated with the disease have been identified. The first gene, NPHP1, has been mapped to chromosome 2q13. Homozygousdeletions have been observed in 70% of affected children and their detection by PCR allows the diagnosis to be established. The existence of genetic heterogeneity has been shown in patients with or without extra-renal involvement. Mutations in the NPHP2 gene, coding for inversin, are responsible for the infantile form of nephronophthisis, which progresses to end-stage renal failure before the age of 5 years. Mutations of the NPHP3 gene, localised to chromosome 3q21-22, have been described in a large Venezuelan family and cause the late-onset form of the disease. Mutations of the NPHP4 gene, localised to chromosome 1p36 have been observed in several families, some of which had associated retinal involvement. Mutations of another gene, IQCB1/NPHP5, localised to chromosome 3q13, have recently been identified in patients with autosomal recessive nephronophthisis and Senior-Loken syndrome.Antenatal diagnosisAntenatal diagnosis can be performed when the mutation has been identified in one child of the family.Genetic counselingNephronophthisis is inherited in an autosomal recessive manner.Management and treatmentAt present, there is no treatment for preventing progression to end-stage renal failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 1 and nephronophthisis-like nephropathy 1. An important gene associated with Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and retina, and related phenotypes are abnormality of retinal pigmentation and renal insufficiency

Disease Ontology : ¹² An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).

Genetics Home Reference : ²⁶ Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.

Wikipedia : ⁷⁷ Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by... more...

GeneReviews: NBK368475

Search NIH Clinical Center for Nephronophthisis

Search GEO for disease gene expression data for Nephronophthisis.