遗传性低钾失盐性肾小管病临床分析  

A clinical analysis of hereditary hypokalaemic salt-losing tubulopathies

作　　者：于迎[1] 冯晓蓓[1] 孟晓慧[2] 李桂梅[3] 任红[1] 张文[1] 潘晓霞[1] 陈楠[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,上海200025 [2]山东大学医学院诊断学教研室 [3]山东省立医院小儿科

出　　处：《肾脏病与透析肾移植杂志》2007年第2期141-145,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：国家自然科学基金资助项目(306070972);上海市重点学科建设项目(T0201);上海市卫生局重点学科建设项目(05Ⅲ001)

摘　　要：目的:分析遗传性低钾失盐性肾小管病的临床特点。方法:回顾性分析上海瑞金医院肾内科住院治疗Bartter综合征和Gitelman综合征共23例,其中经典型Bartter综合征4例,Gitelman综合征19例。结果:4例Bartter综合征发病年龄4月～33岁,临床上以多饮、多尿、乏力主要表现,2例患儿表现为脱水、呕吐、生长发育障碍;19例Gitelman综合征患者发病年龄10～52岁,临床上以双下肢无力、多饮、多尿、夜尿增加为主要表现,部分Gitelman综合征患者伴手足抽搐;实验室检查均表现为低血钾代谢性碱中毒,尿钾排出增加,血肾素活性、血管紧张素Ⅱ及醛固酮明显升高,而血压正常;经典型Bartter综合征尿钙肌酐比>0.2,Gitelman综合征表现为低血镁、低尿钙、低尿钙肌酐比<0.2;补钾或联合消炎痛、安体舒通和门冬氨酸钾镁等药物治疗后症状缓解。结论:低钾失盐性肾小管病主要特点包括低血钾代谢性碱中毒、高尿钾、血肾素、血管紧张素Ⅱ、醛固酮水平增高而血压正常,Bartter综合征和Gitelman综合征鉴别主要在发病年龄、血镁和尿钙水平,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。Objective：To analyze the clinical characteristics of hereditary hypokalaemic salt-losing tubulopathies. Methodology： Clinical data of 23 patients with hereditary hypokalaemic salt-losing tubulopathies was analyzed in our department during past 6 years. They were 4 patients with classic Bartter syndrome and 19 patients with Gitelman syndrome. Results：The onset age of Bartter syndrome range from 4 months to 33 years old. The main symptoms of Bartter Syndorm included polydipsia, polyuria and weakness. Two infants with Bartter Syndorm presented with vomiting, dehydration and growth retardation. The onset age of Gitelman syndrome range from 10 to 50 years old with the main symptoms of weakness, tetany, polydipsia, polyuria,nocturia and paralysis. There were normal blood pressure, hypokalemic alkalosis and hyperreninemia in all patients. The level of urine Ca/Cr ratio in patients with Bartter syndrome was elevated （ 〉 0. 2 ） , while patients with Gitelman syndrome had hypocalciuria, hypomagnesaemia and low level of urine Ca/Cr ratio （ 〈0.2 ）. All symptoms resolved after treatment with potassium and magnesium supplementation or combined spironolactone and indomethacin. Conclusion：Hereditary hypokalaemic salt-losing tubulopathies were characterized by hypokalaemic metabolic alkalosis, renal salt and water loss, hyperreninaemic hyperaldosteronism and normal blood pressure, which can be ameliorated by the interventions of potassium and magnesium supplementation, or combination with anti-aldosterone medications prostaglandin inhibitors. Gitelman syndrome and Bartter syndrome can be distinguished by onset age, laboratory examinations including serum magnesium, urinary calcium and urinary excretion of PGE2.

关 键 词：BARTTER综合征 GITELMAN综合征 肾小管病 

分 类 号：R692.6[医药卫生—泌尿科学]