Coexistence of Gitelman's syndrome and thyroid disease: SLC12A3 gene analysis in two patients

VernacularTitle:Gitelman综合征合并甲状腺疾病:两例患者SLC12A3基因分析
Author: Hui DONG ; Yanhua LANG ; Zeping SHAO ; Lin LI ; Leping SHAO
Publication Type:Journal Article
Keywords: Gitelman's syndrome; Graves' disease; Hypokalemia; Mutation; SLC12A3
From: Chinese Journal of Endocrinology and Metabolism 2010;26(5):395-398
CountryChina
Language:Chinese
Abstract: Two patients with coexistence of thyroid disease and suspected Gitelman's syndrome underwent SLC12A3 gene analysis. The results confirmed that both patients were compound heterozygotes of SLC12A3 gene mutation. Three novel variants of SLC12A3 were found in this study. This report suggests that Gitelman's syndrome may coexist with other disorders associated with hypokalemia, such as Graves' disease.