Open AccessGitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
Author(s) -
Ronghua Yu,
Maosheng Chen
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i18.4252
Subject(s) - gitelman syndrome , hypocalciuria , medicine , hypokalemia , metabolic alkalosis , mutation , genetics , compound heterozygosity , tubulopathy , hypomagnesemia , gene mutation , bartter syndrome , gene , endocrinology , gastroenterology , biology , materials science , magnesium , metallurgy , kidney disease
Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 ( SLC12A3 ) gene resulting in disordered function of the thiazide-sensitive NaCl co-transporter. To date, many types of mutations in the SLC12A3 gene have been discovered that trigger different clinical manifestations. Therefore, gene sequencing should be considered before determining the course of treatment for GS patients.