Article
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
The Journal of clinical investigation - 1 Mar 1997
Lloyd S E, Pearce S H, Günther W, Kawaguchi H, Igarashi T, Jentsch T J, Thakker R V
Abstract excerpt
The annual urinary screening of Japanese children above 3 yr of age has identified a progressive proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal...
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