Familial juvenile nephrophthisis

Type:Term

Definitions
1. cystic disease of renal medulla characterized by polyuria, polydipsia, anemia, and renal failure. There are two forms: one is inherited as an autosomal recessive [MIM*256100], caused by mutation in the NPHP1 gene on 2q13; the other is an autosomal dominant form [MIM*174000].

Scroll to top