青少年和成年发病的Bartter综合征17例临床分析

Clinical analysis of 17 cases of adolescent and adult onset bartter’s syndrome

目的分析Bartter综合征的临床特点。方法回顾性分析我院近25年17例住院治疗的成人Bartter综合征病例。结果Bartter综合征发病时平均年龄28.5岁,男女发病比例为8∶9。临床表现为双下肢无力(17/17),发作性四肢软瘫(9/17),多饮、多尿(10/17),夜尿增加(8/17);实验室检查均表现为低血钾、代谢性碱中毒(17/17),卧立位醛固酮试验显示血肾素活性、血管紧张素Ⅱ及醛固酮(17/17)升高,尿醛固酮(11/15)升高而血压均正常;血尿电解质检查显示尿钾排出增加,血镁正常(17/17),尿Ca/Cr>0.2(17/17);肾脏病理表现为肾小球旁细胞增生(6/7);单纯补钾或联合消炎痛、氨体舒通等药物治疗后症状缓解。结论青少年和成年起病的Bartter综合征的临床特点包括症状较轻、血压正常、低血钾、高尿钾,血镁正常,尿Ca/Cr>0.2,行卧立位醛固酮试验可明确诊断,必要时可以行肾脏穿刺活检;本病治疗应补钾、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有明显效果。

Objective To analyses the clinical characteristics of adolescent and adult onset Bartter＇s syndrome. Methods Clinical data of 17 cases of adolescent and adult onset Bartter＇ s syndrome during past 25years were retrospectively analyzed. Results The mean age of onset of Bartter＇ s was 28.5 years, main symptoms included weekness, polydipsia, polyuria, nocturia, paralysis, blood pressure were all in normal range, and the biochemistry test showed hypokalaemic alkalosis （17/17）, urine Ca/Cr ratio 〉 0.2, renin-angiotension-aldosterone system were activated, and juxtaglomendar apparatus hyperplasia （6/ 7）. All patients＇ symptoms were relieved after treatment with potassium supplementation or combined with spironolactone and/or indomethacin, some patient＇ s serum potassium were normalized during the hospitalization. Conclusion Compared with the classic Bartter＇ s syndrome,the symptoms of adolescent and adult onset Bartter＇ s syndrome were slight and atypical. Clinical biochemistry detection including serum and urine potassium,aldosterone,serum magnesium,urine Ca/Cr ratio is helpful for the diagnosis of Bartter＇ s syndrome. Renal biopsy should be performed when it is necessary. The choice of treatment included potassium supplementation, combined with anti-aldosterone medications, prostaglandin inhibitors, and ACEI.