家族性Gitelman综合征诊治经验  

Diagnostic experience on familial Gitelman syndrome

作　　者：季文[1] 何薇[1] 殷琪淇 张路遥[1] 廖志红[1] 

机构地区：[1]中山大学附属第一医院内分泌与代谢病科,广州510080

出　　处：《中华内分泌代谢杂志》2015年第12期1051-1054,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：广东省自然科学基金（$2013010016003）

摘　　要：目的报道2例家族性Gitelman综合征；重点介绍其基因、分类、治疗、预后。方法分析2例家族性Gitelman综合征患者1年的随访临床资料。结果2例患者血压均正常，低血钾性碱中毒、低血镁、低尿钙，这些异常在使用静脉补镁补钾、螺内酯、吲哚美辛治疗3d后近乎完全被纠正，但1年随访仍疗效欠佳。结论Gitelman综合征的电解质紊乱、碱中毒可被纠正，使用PGE2合成酶抑制剂尚有不同意见．能否耐受长期服药将会是影响治疗效果重要因素。Objective To report two cases of familial Gitelman syndrome and literature review regarding the updates of relevant genes, classification, treatment, and prognosis. Methods The clinical data of two sisters with Gitelman syndrome were retrospectively analyzed. Results Their blood pressures were within normal range. Hypokalaemic alkalosis, hypomagnesemia, and hypocalciuria were corrected almost completely after three days of intravenous magnesium and potassium infusion, spirolactone and indometacin. However, the maintenance of normal potassium was unsuccessful over one year. Conclusion Hypokalaemic alkalosis, hypomagncsemia, and hypocalciuria were normalized in Gitelman syndrome. There was some debate in regard to using PGE2 synthetase inhibitors. Tolerance of long-term medication will be the big challenge for curative effect.

关 键 词：GITELMAN综合征 低钾血症 低镁血症 预后 

分 类 号：R692.6[医药卫生—泌尿科学]