A Case of Gitelman Syndrome.
- Author:
Yu Jin HAN
1
;
Eun Kyeong YEON
;
Young Chang KIM
Author Information
1. Department of Pediatrics, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea. yckimmd@sch.ac.kr
- Publication Type:Case Report
- Keywords:
Gitelman's syndrome;
Hypokalemia;
Hypomagnesemia
- MeSH:
Alkalosis;
Foot;
Gitelman Syndrome;
Hand;
Humans;
Hypokalemia;
Paresthesia;
Receptors, Drug;
Sodium Chloride Symporters
- From:Soonchunhyang Medical Science
2012;18(2):145-147
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter gene mutation. We have experienced one patient whose initial complaint was paresthesia of hand and feet, who had hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. We report the case of Gitelman's syndrome with a brief review of related literature.
