Article
Vitamin A responsive night blindness in Dent's disease.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2009
Sethi Sidharth Kumar, Ludwig Michael, Kabra Madhulika, Hari Pankaj, Bagga Arvind
Abstract excerpt
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...
Topics
- Child, Preschool
- Chloride Channels
- Humans
- Hypercalciuria
- Hypophosphatemia
- Infant
- Male
- Mutation
- Night Blindness
- Polyuria
- Proteinuria
- Rickets