儿童Gitelman综合征6例

Clinical Analysis of Gitelman Syndrome in Children

目的探讨儿童Gitelman综合征的临床特点及其与Bartter综合征的鉴别。方法总结本院住院的6例儿童Gitelman综合征的临床表现、实验室检查、治疗方法及效果,回顾分析Gitelman综合征及Bartter综合征相关文献。分析二者发病机制、临床表现治疗等不同点。结果6例均起病早,婴幼儿期起病,以生长迟缓、无力及抽搐为主要表现,血压正常。实验室检查主要表现低血钾、低血镁,代谢性碱中毒,血浆肾素、血管紧张素明显升高,醛固酮升高不明显或正常。治疗需补钾、补镁症状才能改善。结论Gitelman综合征与Bartter综合征临床表现及发病机制均有不同,相应治疗也不同。

Objective To explore the clinical characteristics of Gitelman syndrome in children and the difference between Gitelman syndrome and Bartter syndrome. Methods Clinical date,biochemical tests and therapy of 6 patients diagnosed as Gitelman syndrome in Beijing children＇s hospital from Mar. to Dec. 2006 were retrospectively analyzed. At the same time,the relative articles of Gitelman syndrome and Bartter syndrome were reviewed. Results The symptoms of 6 patients appeared early. The age of onset of Gitelman syndrome at infancy stage,the main complains were growth delay, weakness, tetany. All patients had normal blood pressure. The biochemical tests showed hypocalemic, hypomagnesium, alkalosis and hyperreninemia. But the concentration of aldosterone was normal or little higher. The manifestations of all patients were relieved ＇after taking both potassium and magnesium. Conclusion Gitelman syndrom and Bartter syndrome have differences at clinical syndrome and machanism of onset.