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See Latest ArticlesVitamin A responsive night blindness in Dent's disease
Pediatric Nephrology, 05/18/09
Sethi SK et al. - The disease is caused by mutations in a renal chloride channel gene, CLCN5. The authors 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.
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