Bartter和Gitelman综合征临床特点比较

目的比较Bartter综合征（BarS）和Gitelman综合征（GitS）的临床特点。方法回顾性分析我院内分泌科近28年收治的36例诊断为BarS和GitS患者临床和生化特点。结果36例患者中，BarS组23例，平均年龄（30．6±9．86）岁，发病时平均年龄（28．5±9．58）岁，男女发病比例为11：12。GitS组12例，平均年龄（19．8±3．19）岁，发病时平均年龄（16．5±d．92）岁，男女发病比例为11：1。两组均以双下肢无力，发作性四肢软瘫，多饮、多尿，夜尿增加等症状为主；均表现为血钾降低、尿钾排出增加和代谢性碱中毒；但GitS组血镁和尿钙水平均显著低于BarS（P〈0．05）。BarS组有3例糖尿病，而GitS组则没有。卧立位醛固酮试验显示两组患者。肾素活性、血管紧张素Ⅱ及醛固酮升高、尿醛固酮升高；BarS组7例和GitS组3例患者行肾穿刺活检，肾脏病理表现为肾小球旁细胞增生（6／7vs2／3）、肾间质损害。结论BarS和GitS综合征临床症状和生化改变非常相似，但GitS组男性多见，具有显著的低血镁和低尿钙，而BarS患者可以合并糖尿病。

Clinical characteristics of Bartter and Gitelman syndromes

Objective To analyze the clinical characteristics of Bartter syndrome （BarS） and Giteiman syndrome （GitS）. Methods Clinical data of 36 adolescent and adult Bars and GitS patients during the past 28 years were retrospectively analyzed and compared. Results The mean age of 23 Bars patients （11 males and 12 females） was 30.6 ± 9.86 years and the mean onset age of BarS was 28.5 ±9.58 years. The mean age of 13 GitS patients （12 males and I female） was 19.8 ± 3.19 years and the mean onset age of GitS was 16.5± 4.92 years. The main symptoms included weakness, polydipsia, polyuria, nocturia, paralysis, and tetancy in the two groups. The blood pressure of all patients was in normal range. The biochemistry test showed hypokalaemic alkalosis in all patients. The serum magnesium and urine Ca/Cr ratio in GitS patients was significantly lower than that in BarS patients. The fasting blood glucose level was higher in 3 BarS patients, but it was normal in all GitS patients. The renin-angiotension-aldosterone system was activated in all patients, but juxtaglomerular apparatus hyperplasia was observed in some patients （BarS 6/7 vs Gits 2/3）. Conclusion The clinical symptoms and biochemical changes in adolescent and adult Bars and GitS patients are similar, but the serum magnesium and urine calcium excretion levels are lower GitS patients in GitS patients. Glucose intolerable diabetes may be presented in BarS patients and GitS may be dominant in males.