Vitamin A responsive night blindness in Dent’s disease

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.

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Acknowledgements

Pia Uerdingen is acknowledged for excellent technical assistance.

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Correspondence to Arvind Bagga.

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S.K. Sethi and M. Ludwig contributed equally to the manuscript.

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Sethi, S.K., Ludwig, M., Kabra, M. et al. Vitamin A responsive night blindness in Dent’s disease. Pediatr Nephrol 24, 1765–1770 (2009). https://doi.org/10.1007/s00467-009-1198-6

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Keywords

  • CLCN5
  • Hypercalciuria
  • Hypophosphataemic rickets
  • Nyctalopia
  • Night blindness
  • Dent’s disease