Article
CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.
Kidney international - 1 Sept 1998
Hoopes R R, Hueber P A, Reid R J, Braden G L, Goodyer P R, Melnyk A R, Midgley J P, Moel D I, Neu A M, VanWhy S K, Scheinman S J
Abstract excerpt
BACKGROUND: X-linked nephrolithiasis, or Dent's disease, encompasses several clinical syndromes of low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure, and is associated with mutations in the CLCN5 gene encoding a kidney-specific voltage-gated chloride channel. Some patients from Europe have rickets, and all symptomatic patients confirmed by mutation...
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