An analysis of 4 cases with Gitelman syndrome caused by SLC12A3 gene mutation in children / 中华实用儿科临床杂志

ABSTRACT

Objective:To study the clinical and genetic characteristics of Gitelman syndrome in children.Methods:Four children diagnosed with Gitelman syndrome in the Baoding Children′s Hospital from January 2017 to October 2018 were enrolled, and their clinical data and pathogenic gene carrying status were analyzed.Results:There were 2 males and 2 females in the enrolled patients.Two children complained of short stature and 2 children were diagnosed as hypokalemia by accident.All the 4 children showed constipation, short stature, repeated hypokalemia, hyponatremia, hypochloremia, normal urinary calcium/creatinine ratio, elevated renin and angiotensin Ⅱ levels in supine position, and normal aldosterone.Three children had hypomagnesemia and 1 child had a normal blood magnesium level.All of the 4 children had a compound heterozygous mutation of SLC12A3 gene.The mutations of c. 1670-7G>A and c. 1698C>A were not reported in the literature. Conclusions:Constipation and short stature are common clinical manifestations of Gitelman syndrome in children.Typical cases show hypokalemia, hypomagnesemia, hyponatremia and hypochloremia, etc.The blood magnesium level can be normal in few children.Most children with Gitelman syndrome carry SLC12A3 compound heterozygous mutations.