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Vitamin A responsive night blindness in Dent’s disease

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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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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India

    Sidharth Kumar Sethi, Pankaj Hari & Arvind Bagga

  2. Department of Clinical Chemistry and Pharmacology, University of Bonn, Bonn, Germany

    Michael Ludwig

  3. Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

    Madhulika Kabra

Authors
  1. Sidharth Kumar Sethi
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  2. Michael Ludwig
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  3. Madhulika Kabra
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  4. Pankaj Hari
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  5. Arvind Bagga
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Corresponding author

Correspondence to Arvind Bagga.

Additional information

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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  • DOI: https://doi.org/10.1007/s00467-009-1198-6

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