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Gitelman syndrome: novel mutation and long-term follow-up

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Abstract

We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.

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Authors and Affiliations

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

    Aditi Sinha, Biswanath Basu, Ashima Gulati, Pankaj Hari & Arvind Bagga

  2. Institute of Biology and Medical Genetics of the 1st Faculty of Medicine of Charles University and General Teaching Hospital, Prague, Czech Republic

    Petr Lněnička

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  1. Aditi Sinha
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  2. Petr Lněnička
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  3. Biswanath Basu
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  4. Ashima Gulati
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  5. Pankaj Hari
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  6. Arvind Bagga
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Correspondence to Aditi Sinha.

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Sinha, A., Lněnička, P., Basu, B. et al. Gitelman syndrome: novel mutation and long-term follow-up. Clin Exp Nephrol 16, 306–309 (2012). https://doi.org/10.1007/s10157-011-0542-x

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  • DOI: https://doi.org/10.1007/s10157-011-0542-x

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