Bartter综合征诊疗中国专家共识(2023)  

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

作　　者：中华医学会罕见病分会 中国研究型医院学会罕见病分会 中国罕见病联盟 北京罕见病诊疗与保障学会 Bartter综合征中国专家组 陈丽萌[2,3] 陈朝英 张抒扬[3] 张磊[5] 彭晓艳[4] 杨宏仙 简珊 樊晓红[5] 蒋兰萍[7] 董源[5] 赵若环 吕宁 乐偲 涂娟[4] Chinese Society of Rare Diseases;Rare Diseases Society of Chinese Research Hospital Association;China Alliance for Rare Diseases;Beijing Society of Rare Disease Clinical Care and Accessibility;Bartter Syndrome Consensus Working Group;CHEN Limeng;CHEN Chaoying;ZHANG Shuyang(不详;Department of Nephrology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Nephrology,Children′s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]不详 [2]中国医学科学院北京协和医院肾内科,北京100730 [3]中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室,北京100730 [4]首都儿科研究所附属儿童医院肾脏内科,北京100020 [5]北京协和医院肾内科 [6]北京协和医院儿科 [7]中山大学附属第一医院肾内科

出　　处：《罕见病研究》2024年第1期87-101,共15页Journal of Rare Diseases

基　　金：国家重点研发计划(2022ZD0116003);中央高水平医院临床科研业务费(2022-PUMCH-B-019,2022-PUMCH-D-002);首都卫生发展科研专项(CFH 2020-2-4018);中国医学科学院医学与健康科技创新工程(2021-I2M-1-003)。

摘　　要：Bartter综合征是一种罕见的遗传性失盐性肾病,以继发性醛固酮增多症伴低血钾、低氯性代谢性碱中毒、血压正常或偏低为主要临床特点。可出现早产、低血容量、室性心律失常、横纹肌溶解、肾功能衰竭、生长发育迟缓、感音神经性耳聋等临床情况,疾病危害大。近年来,Bartter综合征相关研究取得了长足进步。中华医学会罕见病分会、中国研究型医院学会罕见病分会、中国罕见病联盟、北京罕见病诊疗与保障学会联合相关领域专家全面复习了Bartter综合征相关文献,基于最新循证医学证据,在Bartter综合征的临床表现与分型、诊断、治疗、并发症管理方面达成共识,为临床规范化诊疗提供了依据。Bartter syndrome(BS)is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis,and normal or low blood pressure.In severe cases,preterm delivery,hypovolemia,ventricular arrhythmia,rhabdo-myolysis,renal failure,growth failure and sensorineural deafness may occur.In recent years,research on BS has made significant progress.The Bartter Syndrome Consensus Working Group has performed a system-atic literature review,and based on evidence-based medicine,summarized aspects related to BS,including clinical manifestations and classification,diagnosis,treatment strategies,and management of complications.This consensus provides an important reference for the better diagnosis and treatment of BS.

关 键 词：BARTTER综合征 诊断 治疗 共识 中国 

分 类 号：R596[医药卫生—内科学] R692[医药卫生—临床医学] R692.5