Nephronophthisis 1

**Semantic type:** Disease or Syndrome

**Definition:** Progressive 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.

**Synonyms:** - Familial Juvenile Nephronophthisis - Juvenile Nephronophthisis - NPH1