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familial juvenile nephrophthisis


Definition: 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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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.