Gitelman's Syondrome: a Hereditary Disorder Characterized by Hypokalemia and Hypomagnesaemia
Full Text (PDF)
Ladislav Slovacek 1 *
More Detail
1 University of Defence, Faculty of Military Health Sciences, Department of Field Internal Medicine, Hradec Kralove, Czech Republic
* Corresponding Author

Abstract

Gitelman’s syndrome is a type of hereditary tubular disorder, which is caused by inactive mutations in the gene, which encodes thiazide sensitive sodium chloride cotransporter (SLC12A3) in the distal convoluted tubule. Biochemical characteristic is comparable to effect of thiazide diuretics: hypokalemia, hypomagnesaemia, hypocalciuria, hypokalemic alkalosis and blood pressure is normal or lower. Gitelman’s syndrome is typically diagnosed accidentally (hypokalemia) in adolescents or adults and the course is benign. If present, the most prominent symptoms are muscular fatigue or occasional tetany. Treatment includes magnesium and potassium salts and potassium saving diuretics. We report here a case of an adult patient with Gitelman’s syndrome. The patient was a bearer of three heterozygote mutations in the gene, which encodes thiazide sensitive sodium chloride cotransporter (SLC12A3) in the distal convoluted tubule.

Keywords

License

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

https://doi.org/10.29333/ejgm/82653

EUR J GEN MED, 2009 - Volume 6 Issue 2, pp. 127-130

Publication date: 15 Apr 2009

Article Views: 716

Article Downloads: 368

Open Access References How to cite this article