Gitelman Syndrome, Orphanet Journal of Rare Diseases
Gitelman syndrome
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands,
Orphanet Journal of Rare Diseases 2008, 3:22doi:10.1186/1750-1172-3-22
Nine VAM Knoers and Elena N Levtchenko,
The electronic version of this article is the complete one and can be found online at: http://www.ojrd.com/content/3/1/22
© 2008 Knoers and Levtchenko; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood.