Article
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
Kidney international - 1 Oct 1997
Akuta N, Lloyd S E, Igarashi T, Shiraga H, Matsuyama T, Yokoro S, Cox J P, Thakker R V
Abstract excerpt
The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. The disorder has been observed in over 60 patients and has a familial predisposition. Mutations of a renal chloride channel gene, CLCN5, have been reported in four such families, and we have undertaken...
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