17例Gitelman综合征临床分析

目的分析Gitelman综合征的临床特点和实验室特点,进一步提高诊疗水平。方法对解放军总医院近5年来17例(男/女:11/6)患者进行回顾性研究,对其临床症状、实验室、影像学检查结果及诊治情况进行分析。结果 17例患者中15例均有不同程度的下肢乏力,其中软瘫8例;实验室检查表现为低血钾(17/17),低血镁(17/17)、低尿钙(17/17);血肾素活性(17/17)、血管紧张素Ⅱ(14/17)及醛固酮(7/17)明显升高;单纯补钾或联合消炎痛、安体舒通和门冬氨酸钾镁片等药物治疗后症状缓解,但血钾、血镁未升至正常水平。结论 Gitelman综合征以双下肢乏力为主要临床表现,并伴有低血钾、低血镁等,治疗应以补钾、补镁、醛固酮拮抗剂等多种药物联合应用,预后良好。

Clinical analysis of 17 cases of Gitelman syndrome

Objective To analyze the clinical and laboratory characteristics of Gitelman syndrome.Methods Seventeen patients with Gitelman syndrome(male/female: 11/6) were analyzed for their clinical symptoms,laboratory test results,imaging findings,treatments and outcomes.Results Fifteen of the 17 patients presented with varying degrees of lower limb weakness,and 8 experienced flaccid paralysis.The laboratory tests showed hypokalemia(17/17),hypomagnesemia(17/17) and hypocalcemia(17/17).Blood renin activity(17/17),angiotensin II(14/17) and aldosterone levels(7/17) were significantly higher in the patients than in normal subjects.The symptoms were relieved by potassium alone or in combination with indomethacin,spironolactone and other potassium magnesium asparaginate,but the serum potassium and magnesium failed to recover the normal levels after the treatments.Conclusion The primary clinical manifestations of Gitelman syndrome are lower extremity weakness with hypokalemia and hypomagnesemia.Combined drug therapies including potassium,magnesium,aldosterone antagonists and other drugs are recommended.The prognosis of the patients is favorable.