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Nephronophthisis 1
rareProgressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
- Identifiers
- MONDO:0009728 OMIM:256100Orphanet:93592
- Causal genes
- NPHP1
- Also known as
- familial juvenile nephronophthisis · juvenile nephronophthisis · nephronophthisis (disease) caused by mutation in NPHP1 · nephronophthisis 1, juvenile · nephronophthisis type 1
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