儿童Gitelman综合征合一例并文献复习

Gitelman syndrome in children:a case report and literature review

儿童Gitelman综合征临床表现无特异性,基因检测为其确诊的金标准,目前治疗方法是对症治疗。本例患儿临床表现以乏力伴矮身材为主,实验室检查提示低钾血症、低氯性代谢性碱中毒、高尿钾、高肾素、血镁处于正常低限,基因检测提示SLCl2A3基因复合杂合突变,予以补钾及口服螺内酯治疗后乏力症状缓解,血钾回升正常水平。

There is no specific clinical manifestation of Gitelman syndrome in children,and genetic testing is the gold standard for diagnosis.The current treatment of Gitelman syndrome in children was symptomatic treatment.The main clinical manifestation of this patient was fatigue and short stature,Laboratory examination prompted hypokalemia,metabolic alkalosis,high urinary potassium,high renin and serum level of magnesium was within the normal lower limit.Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene.After potassium supplementation and oral spironolactone treatment,the symptoms of fatigue were relieved,and the blood potassium level returned to normal level.