Vitamin A responsive night blindness in Dent's disease

Pediatr Nephrol. 2009 Sep;24(9):1765-70. doi: 10.1007/s00467-009-1198-6. Epub 2009 May 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chloride Channels / genetics
  • Humans
  • Hypercalciuria / genetics*
  • Hypercalciuria / physiopathology
  • Hypophosphatemia / genetics*
  • Hypophosphatemia / physiopathology
  • Infant
  • Male
  • Mutation
  • Night Blindness / drug therapy*
  • Night Blindness / genetics
  • Night Blindness / physiopathology
  • Polyuria / genetics*
  • Polyuria / physiopathology
  • Proteinuria / genetics*
  • Proteinuria / physiopathology
  • Rickets / genetics*
  • Rickets / physiopathology
  • Syndrome
  • Thirst / physiology
  • Vitamin A / therapeutic use*

Substances

  • CLC-5 chloride channel
  • Chloride Channels
  • Vitamin A