Referenced in: none

Automatically associated channels: ClC4 , ClC5

Title: Vitamin A responsive night blindness in Dent's disease.

Authors: Sidharth Kumar Sethi, Michael Ludwig, Madhulika Kabra, Pankaj Hari, Arvind Bagga

Journal, date & volume: Pediatr. Nephrol., 2009 Sep , 24, 1765-70

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19444483

Abstract
Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene, CLCN5. We report on three boys, of Indian origin, with Dent's disease that presented at an early age (1-4 years), with polyuria, polydipsia, salt craving, recurrent vitamin A-responsive night blindness, hypophosphataemic rickets, hypercalciuria and low molecular weight proteinuria. All these patients were found to have novel mutations in the CLCN5 gene.