儿童Gitelman综合征6例临床分析

Six cases of Gitelman syndrome in children and clinical analysis

目的分析Gitelman综合征的临床表现、实验室检查、诊断和治疗方法,进一步提高诊疗水平。方法回顾性分析2010年9月至2014年6月苏州大学附属儿童医院肾脏科收治的6例Gitelman综合征患儿的临床资料。结果 6例均存在全身乏力等临床表现,以双下肢乏力为主,生化检查示不同程度的低血钾、低血镁及代谢性碱中毒,肾素-醛固酮-血管紧张素Ⅱ水平见不同程度的升高,SLC12A3基因测序阳性,经对症治疗后长期随访,未出现相关并发症。结论儿童Gitelman综合征以双下肢乏力为主要临床表现,伴有低血钾、低血镁等,通过检查尿钙与肌酐比值、血镁、尿镁、肾素活性、血管紧张素Ⅱ和醛固酮水平,结合检测到血清SLC12A3基因上的变异等可确诊。该病治疗以补钾、补镁、醛固酮拮抗剂等多种药物联合应用为主,虽不能治愈,但预后良好。

Objective To analyze the clinical manifestations of Gitelman syndrome,laboratory tests,diagnostic and therapeutic methods,to further improve the diagnosis and treatment. Methods The clinical data of six cases of Gitelman syndrome from the Nephrology Department of Children＇s Hospital Affiliated to Suzhou University were retrospectively analyzed,and literature review was also done. Results All six cases had clinical manifestation of Malaise.Through biochemical detection it was found the they all had hypokalemia,hypomagnesemia and metabolic alkalosis at different levels,and the Renin-angiotensin-aldosterone Ⅱ level increased to different extent;the sequencing of the SLC12A3 gene displayed positive. Through symptomatic treatment and long-term follow-up,no complications were detected. Conclusion Gitelman syndrome in children has double lower limbs weakness as the main clinical manifestations,accompanied by hypokalemia,low blood magnesium and so on. It can be confirmed by the way of checking the calcium in the blood,urinary magnesium,calcium/creatinine and urinary renin activity and angiotensin Ⅱ and aldosterone level,combined with the detected serum SLC12A3 gene mutation. Treatment of the disease is to make up for potassium,magnesium,aldosterone antagonists,and other drugs combined. Good prognosis is predicted. Though it can＇t be cured,the prognosis is good.