" /> Nephronophthisis 1 - CISMeF





Preferred Label : Nephronophthisis 1;

NCIt synonyms : Juvenile Nephronophthisis; Familiar Juvenile Nephronophthisis; Familial Juvenile Nephronophthisis; NPH1;

NCIt 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.;

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30/07/2025


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