Definition: 'Familial Juvenile Nephrophthisis'
familial juvenile nephrophthisisType: Term
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].
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