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目的:分析Gitelman综合征(GS)的临床特征,以提高该病的诊治水平。方法:回顾性分析南京医科大学第一附属医院内分泌科近5年住院诊治的14例GS病例资料。结果:患者发病年龄13～54(32.9±12.0)岁,男5例,女9例。病程最短为1个月,最长为15年。体质指数(BMI):(21.0±2.9)kg/m2,收缩压:(109.6±10.8)mmHg,舒张压(69.6±6.7)mmHg。临床上以双下肢无力、发作性四肢软瘫、多饮、多尿、夜尿增加、手足抽搐等为主要表现。实验室检查均表现为低血钾、低血镁、低尿钙、高尿钾、代谢性碱中毒。卧立位试验结果显示:卧位及立位血浆肾素活性(PRA)、血管紧张素Ⅱ和醛固酮有不同程度升高。肾脏穿刺病理提示球旁器增生(3/4)。补钾补镁、联合安体舒通等药物治疗后症状缓解,但血钾(11/14)、血镁(10/14)未升至正常水平。结论:GS的临床特征包括:低血钾、低血镁、低尿钙、正常偏低血压以及高PRA、高血管紧张素Ⅱ、高醛固酮和高血气pH值,可以总结为“四低四高”。本病治疗以补钾补镁为主,可以联合应用醛固酮拮抗剂,一般预后良好。
Objective: To analyze the clinical features of Gitelman syndrome (GS) to improve the diagnosis and treatment of the disease. Methods: A retrospective analysis of the First Affiliated Hospital of Nanjing Medical University, Department of Endocrinology, nearly 5 years inpatient treatment of 14 cases of GS data. Results: The age of onset was 13-54 (32.9 ± 12.0) years, with 5 males and 9 females. The shortest duration of 1 month, up to 15 years. Body mass index (BMI): (21.0 ± 2.9) kg / m2 systolic pressure: (109.6 ± 10.8) mmHg, diastolic blood pressure (69.6 ± 6.7) mmHg. Clinically, the weakness of both lower extremities, paroxysmal limbs paralysis, polyhydration, polyuria, nocturia, tetany, etc. as the main performance. Laboratory tests showed hypokalemia, hypomagnesemia, low urinary calcium, high urinary potassium, metabolic alkalosis. The lying position test results show that: lying position and standing plasma renin activity (PRA), angiotensin Ⅱ and aldosterone increased to varying degrees. Renal puncture pathology prompted bulbar hyperplasia (3/4). Potassium supplementation, combined with spironolactone and other drugs relieve symptoms, but serum potassium (11/14), blood magnesium (10/14) did not rise to normal levels. CONCLUSIONS: The clinical features of GS include hypokalemia, hypomagnesemia, hypourica, normal hypotension and high PRA, high angiotensin II, high aldosterone and high blood gas pH, which can be summarized as high". The treatment of this disease to make up the main potassium supplement, aldosterone antagonists can be combined, the general prognosis is good.