Gitelman综合征34例临床分析

Gitelman syndrome:a clinical analysis of 34 cases

目的总结Gitelman综合征(GS)的临床特点,以提高对GS的认识。方法对2008年至2018年在郑州大学第一附属医院就诊的34例GS患者的临床资料进行回顾性分析。结果所有患者均存在低血钾、低尿钙,76.5%(26/34)的患者存在低血镁,23.5%(8/34)的患者血镁正常;88.2%(30/34)的患者血压正常,11.8%(4/34)的患者存在血压增高。10例患者甲状旁腺功能低下,血镁与甲状旁腺激素(PTH)之间呈显著正相关(P<0.05)。11例患者存在高血糖,9例患者存在甲状腺异常。7例患者行基因检测,新发现4种突变。结论低镁可能是部分患者出现甲状旁腺功能减退的原因。即使有高血压或者血镁正常,也不能排除GS的可能。

Objective To summarize the clinical characteristics of Gitelman syndrome (GS), and to improve the understanding of GS.Methods The clinical data from 34 patients with GS treated in the First Affiliated Hospital of Zhengzhou University from 2008 to 2018 were analyzed retrospectively.Results All patients had hypokalemia and hypocalciuria;and 76.5%(26/34) of patients had hypomagnesaemia, while 23.5%(8/34) of them were with normal blood magnesium;88.2%(30/34) of all patients were with normal blood pressure, and 11.8%(4/34) of them were with high blood pressure. Hypoparathyroidism was found in 10 patients. There was a significant positive correlation between blood magnesium and parathyroid hormone(P<0.05). Eleven patients had high blood glucose, 9 patients were with thyroid abnormality. Seven patients underwent gene analysis, and 4 variants were newly identified.Conclusions Hypomagnesia may be the cause of hypoparathyroidism in some patients. Even if patients have hypertension or normal blood magnesium, GS can not be ruled out for them.