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.
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
陈朝英
张抒扬
张磊
彭晓艳
杨宏仙
简珊
樊晓红
蒋兰萍
董源
赵若环
吕宁
乐偲
涂娟
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)
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)。
