2 Case Reports and Literature Review of Gitelman Syndrome with SLC12A3 Gene Mutations
Huo Guosheng
Li Li
He Yiwen
Abstract：Objective:To analyze the clinical features and genetic mutations of 2 patients with Gitelman syndrome and review the related literature.Methods:The clinical characteristics and treatment process of 2 boys with Gitelman syndrome who were admitted to the hospital from May to August 2021 were retrospectively analyzed.DNA was extracted and whole-exome sequencing was performed.Results:2 patients presented with varying degrees of hypokalemia and corresponding clinical manifestations.Their lowest blood potassium was 1.8 mmol/L and 1.61 mmol/L,respectively.Hypokalemia of patient 2 had been for 10 years.The heterozygous mutation of SLCl2A3 for c.179C＞T was found in patient 1,which inherited from his asymptomatic father.The compound heterozygous mutations of SLCl2A3 for c.1315G＞A and c.1844C＞T was found in patient 2,with 1 mutant inherited from his father and the other from his mother.This compound heterozygous mutation of patient 2 wasn't reported in Gitelman syndrome in China.Conclusion:Hypokalemia is an important feature of Gitelman syndrome in children.Genetic testing is helpful for the diagnosis of Gitelman syndrome.
Keywords：SLC12A3 geneGitelman syndmmeChild
Publication Date：2025-03-25
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 720-723,727 )