50例Gitelman综合征患者临床特征和药物治疗分析  

Analysis of Clinical Manifestations and Drug Therapies of Gitelman Syndrome

作　　者：赵喆[1,2] 唐彦 周婧雅[3,4] 陈晓光 张磊[5] 陈丽萌 袁涛[6] ZHAO Zhe;TANG Yan;ZHOU Jingya;CHEN Xiaoguang;ZHANG Lei;CHEN Limeng;YUAN Tao(Department of Pharmacy,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Bioactive Substrate and Function of Natural Medicine,Institute of Materia Medica,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100050,China;Department of Medical Records,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Collaborating Center for the WHO Family of International Classifications in China,Beijing 100730,China;Department of Nephrology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Endocrinology,Key Laboratory of Endocrinology of National Health Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院药剂科,北京100730 [2]中国医学科学院北京协和医学院药物研究所天然药物活性物质与功能国家重点实验室,北京100050 [3]中国医学科学院北京协和医院病案科,北京100730 [4]世界卫生组织疾病分类家族中国合作中心,北京100730 [5]中国医学科学院北京协和医院肾内科,北京100730 [6]中国医学科学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《协和医学杂志》2022年第2期277-286,共10页Medical Journal of Peking Union Medical College Hospital

基　　金：中国医学科学院医学与健康科技创新工程(2016⁃I2M⁃4⁃001);中国医学科学院中央级公益性科研院所基本科研业务费专项资金(2017PT32020,2018PT32001)。

摘　　要：目的总结Gitelman综合征(Gitelman syndrome,GS)患者的临床特征及药物治疗情况,以提高临床诊疗水平。方法回顾性分析2007年1月至2019年12月北京协和医院临床诊断为GS且住院治疗患者的临床资料。对其临床表现、实验室检查、肾穿刺活检病理特征以及药物治疗情况进行归纳,并根据是否使用螺内酯,分为单纯补钾组和联合螺内酯组,比较两组的治疗效果。结果共纳入50例GS患者,其中男性30例,女性20例;平均年龄(30.78±13.99)岁。最常见的临床表现为乏力(54.0%,27/50),其他临床表现包括四肢无力(40.0%,20/50)、肢体麻木(26.0%,13/50)、软瘫(26.0%,13/50)、心悸(16.0%,8/50)、夜尿增多(14.0%,7/50)。入院时血钾(2.55±0.45)mmol/L,血镁(0.64±0.20)mmol/L,24 h尿钾(92.25±41.33)mmol,24 h尿镁(3.75±2.14)mmol,24 h尿钙0.68(0.38,1.32)mmol;血气分析结果显示,29例(58.0%)发生代谢性碱中毒;31例接受卧立位醛固酮试验的患者中,21例(67.7%)存在肾素⁃血管紧张素⁃醛固酮系统激活。7例(14.0%,7/50)患者行肾穿刺活检术,其中1例肾小球系膜增生,5例肾小球旁器明显增生,另1例未见明显肾小球旁器增生。50例患者均接受口服补钾治疗,平均补钾量为(1.62±1.25)mmol/(kg·d)。其中,46例(92.0%,46/50)口服氯化钾缓释片(1.5~12 g/d);19例(38.0%,19/50)口服20%枸橼酸钾口服溶液(40~200 mL/d,分2~4次服用);37例(74.0%,37/50)接受门冬氨酸钾镁片治疗(2~15片/d);32例(64.0%,32/50)使用螺内酯片(20~240 mg/d);2例(4.0%,2/50)使用钙镁片(3片/d)。联合螺内酯组治疗后血钾升高水平显著高于单纯补钾组[(1.07±0.61)mmol/L比(0.73±0.59)mmol/L,P<0.05]。50例患者出院时平均血钾为(3.49±0.44)mmol/L,血镁为(0.67±0.16)mmol/L。结论GS多见于青少年或成年人,但儿童亦可发病。最常见的症状是乏力,实验室检查可见低血钾、低血镁、低尿钙、代谢性碱中毒及肾素⁃血管紧张素⁃醛固酮系统激活等表现。该病治疗主�Objective To analyze the clinical characteristics and medical treatment of patients with Gitelman syndrome(GS)for further improvement.Methods A retrospective study was conducted on patients with GS hospitalized in Peking Union Medical College Hospital from January,2008 to December,2019.Their clinical manifestations,laboratory examinations,pathological features,and drug treatments were summarized.In addition,according to whether spironolactone is used or not,these patients were divided into a simple potas⁃sium supplementation group and a spironolactone⁃combined group.The effect of treatment between the two groups were compared.Results The male to female ratio of 50 patients was 1.5∶1(male:30,female:20),and the age at first diagnosis was(30.78±13.99)years old.Among the 50 patients,the most common clinical manifestation was fatigue(54.0%,27/50),and other clinical manifestations included limb weakness(40.0%,20/50),limb numbness(26.0%,13/50),flaccid paralysis(26.0%,13/50),palpitation(16.0%,8/50),and nocturia(14.0%,7/50).At admission,they had serum potassium(2.55±0.45)mmol/L,serum magnesium(0.64±0.20)mmol/L,24 h urine potassium(92.25±41.33)mmol,24 h urine magnesium(3.75±2.14)mmol,and 24 h urine calcium 0.68(0.38,1.32)mmol.The blood gas analysis results sug⁃gested that most patients had metabolic alkalosis.Seven patients(14.0%,7/50)underwent renal biopsy,showing 1 case of glomerular mesangial hyperplasia,5 cases of obvious hyperplasia of juxtaglomerular apparatus,and 1 case of no obvious hyperplasia of juxtaglomerular apparatus.All the 50 patients received oral potassium supplementation of(1.62±1.25)mmol/(kg·d).46 patients(92.0%,46/50)were treated with potassium chloride sustained⁃release tablets(1.5-12 g/d)for potassium supplementation,while 19 patients(38.0%,19/50)received regimens containing oral solution of 20%potassium citrate(40-200 mL/d,2-4 times/d).In addition,potassium magnesium aspartate(2-15 tablets/d)was used in 37 patients(74.0%,37/50),and spironolactone(20-240 mg/d)in 32 patients(64.0%,32/

关 键 词：GITELMAN综合征 临床表现 药物治疗 血钾 

分 类 号：R596.1[医药卫生—内科学]