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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±4.92)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。
Objective To compare the clinical features of Bartter syndrome (BarS) and Gitelman syndrome (GitS). Methods The clinical and biochemical characteristics of 36 patients diagnosed as BarS and GitS were retrospectively analyzed in our department of endocrinology in recent 28 years. Results Among the 36 patients, BarS was found in 23 patients with an average age of (30.6 ± 9.86) years and a mean age of onset of (28.5 ± 9.58) years. The incidence of male to female disease was 11:12. GitS group, 12 cases, the average age (19.8 ± 3.19) years old, the average age of onset (16.5 ± 4.92) years, the incidence of male to female ratio of 11: 1. Both groups were weakness of the lower extremities, paroxysmal limbs, paralysis, polydipsia, polyuria, increased nocturia; mainly showed decreased serum potassium, increased urinary potassium excretion and metabolic alkalosis; but GitS group of blood magnesium And urinary calcium levels were significantly lower than BarS (P <0.05). There were 3 cases of diabetes in the BarS group, but no in the GitS group. The lying aldosterone test showed renin activity, elevated angiotensin II and aldosterone, and elevated urinary aldosterone in both groups. Kidney biopsy was performed in 7 patients in the BarS group and in 3 patients in the GitS group, and renal pathological findings were nephrotic Cell proliferation (6 / 7vs2 / 3), renal interstitial damage. Conclusions The clinical symptoms and biochemical changes of BarS and GitS syndrome are very similar, but the GitS group is more common in males with significant hypomagnesemia and hypocalciuria, while BarS patients can be associated with diabetes mellitus.