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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, laboratory tests, diagnosis and treatment of Gitelman syndrome to further improve the diagnosis and treatment. Methods The clinical data of 6 children with Gitelman’s syndrome admitted to Department of Nephrology of Children’s Hospital Affiliated to Soochow University from September 2010 to June 2014 were retrospectively analyzed. Results The clinical manifestations such as generalized malaise were all found in 6 cases. The main weakness of the lower extremities was biochemical examination. Hypokalemia, hypomagnesemia and metabolic alkalosis were observed to some extent. The levels of renin - aldosterone - angiotensin Ⅱ were observed to varying degrees Of the positive, SLC12A3 gene sequencing positive, after long-term follow-up after symptomatic treatment, no relevant complications. Conclusion Gitelman syndrome in children with the main clinical manifestations of weakness of the lower extremities, accompanied by hypokalemia, hypomagnesemia, by checking the ratio of urinary calcium and creatinine, blood magnesium, magnesium, renin activity, angiotensin Ⅱ and aldosterone levels , Combined with the detection of mutations in the gene SLC12A3 serum can be diagnosed. The disease treatment of potassium, magnesium, aldosterone antagonist and other drugs combined with the main, although not cured, but the prognosis is good.