Gitelman综合征9例临床分析

目的分析Gitelman综合征的临床特点。方法回顾性分析解放军总医院近25年9例住院治疗的Gitelman综合征病例。结果9例Gitelman综合征患者发病年龄14～33岁,男女比例为8：1。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,9例均有不同程度的下肢乏力,其中软瘫4例;实验室检查均表现为低血钾、代谢性碱中毒（9／9）,卧立位醛固酮试验显示,血肾素活性（9／9）、血管紧张素Ⅱ（9／9）及醛固酮（5／9）明显升高,而血压正常;血尿电解质检查显示,尿钾排出增加、低血镁、高尿镁、低尿钙、低尿钙肌酐比（〈0．2,5／5）;肾脏病理表现为肾小球旁细胞增生（2／2）;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（8／9）水平。结论Gitelman综合征的临床特点包括双下肢乏力、低血钾、高尿钾、血压正常,检查血镁、尿钙、尿镁或尿钙肌酐比和血肾素、血管紧张素Ⅱ、醛固酮水平可明确诊断;本病治疗应补钾、补镁、前列腺素合成酶抑制剂、醛固酮拮抗剂等多种药物联合应用,预后良好。

A clinical analysis of 9 cases of Gitelman syndrome

OBJECTIVE: To analyze the clinical characteristics of Gitelman syndrome. METHODS: Clinical data of 9 cases of Gitelman syndrome seen in the past 25 years in Chinese PLA General Hospital were analyzed retrospectively. RESULTS: The age of onset of Gitelman syndrome was 14 - 33 years. Main symptoms included weakness, tetany, polydipsia, polyuria, nocturia and paralysis. All patients had normal blood pressure. The biochemical tests showed hypokalemic alkalosis (9/9), hypocalciuria and hypomagnesaemia (9/9), low urine Ca/Cr ratio (<0.2, 5/5) and hyperreninemia (9/9). Renal pathological examination showed juxtaglomerular apparatus hyperplasia (2/2). All the patients' symptoms were relieved after treatment with potassium and magnesium supplementation or with combined spironolactone and indomethacin. However, serum potassium and magnesium levels were still lower than normal range (8/9); only one patient's serum potassium recovered to normal level. CONCLUSION: When clinical features such as weakness, hypokalemic alkalosis with normotension were encountered, Gitelman syndrome should be suspected. Serum magnesium as well as urine magnesium and calcium should be measured for confirmation of diagnosis. The treatment of choice included potassium and magnesium supplementation, or combination with anti-aldosterone medications, prostaglandin inhibitors and angiotensin-converting enzyme inhibitor. Generally, these patients have good prognosis.