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Clinical and Experimental Nephrology

Erschienen in:

01.04.2012 | Case Report

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

verfasst von: Aditi Sinha, Petr Lněnička, Biswanath Basu, Ashima Gulati, Pankaj Hari, Arvind Bagga

Erschienen in: Clinical and Experimental Nephrology | Ausgabe 2/2012

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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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Titel: Gitelman syndrome: novel mutation and long-term follow-up
verfasst von: Aditi Sinha
Petr Lněnička
Biswanath Basu
Ashima Gulati
Pankaj Hari
Arvind Bagga
Publikationsdatum: 01.04.2012
Verlag: Springer Japan
Erschienen in: Clinical and Experimental Nephrology / Ausgabe 2/2012
Print ISSN: 1342-1751
Elektronische ISSN: 1437-7799
DOI: https://doi.org/10.1007/s10157-011-0542-x

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