familial juvenile nephrophthisis


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fa·mil·i·al ju·ve·nile neph·roph·thi·sis

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].

familial juvenile nephrophthisis

1. An AR form of chronic interstitial nephritis which may accompanied by retinal dysplasia, hepatic fibrosis, skeletal defects Clinical Urine concentration defect with polyuria and polydipsia, possibly due to a primary tubular defect, often sodium wasting, persistent hypokalemia, metabolic acidosis, possibly with growth retardation.
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