目的 探讨儿童Gitelman综合征的临床及基因突变特点.方法 回顾分析3例Gitelman综合征患儿的临床资料.结果 3例患儿均为男性,年龄分别为3、8、10岁.临床表现为低钾血症、低镁血症、碱中毒、高肾素血症、高醛固酮血症.基因检测显示存在SLC12A3基因的复合杂合突变,共发现SLC12A3基因的5个突变位点:c.179 C>T(Thr 60 Met)、c.248 G>A(Arg 83 Gln)、c.2129 C>A(Ser 710 X)、c.2660+1 G>A、c.1456 G>A(Asp 486 Asn).患儿确诊后,经补钾、补镁、螺内酯治疗后病情好转.结论 儿童出现低钾血症需注意Gitelman综合征,基因检测有助于明确诊断.%Objectives To explore the clinical and gene mutation characteristics of Gitelman syndrome in children. Method The clinical data of 3 children with Gitelman syndrome were retrospectively analyzed. Results All three cases were male and their age were 3, 8 and 10 years . The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia,and hyperaldosteronemia.Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene.A total of 5 mutation sites were found in the SLC12A3 gene,c.179C>T(Thr60Met),c.248 G>A(Arg83Gln),c.2129 C>A(Ser710X), c.2660+1G>A, c.1456G>A (Asp486Asn). After the diagnosis was confirmed, they were treated with potassium supplement, magnesium supplement, and spironolactone and the conditions were improved in all cases. Conclusions In children with hypokalemia, be aware of Gitelman syndrome, and gene detection is helpful for the diagnosis.
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