囊性纤维化诊断与治疗中国专家共识（2023版）

·352·中华结核和呼吸杂志2023年4月第46卷第4期Chin J Tubere Respir Dis,April2023,Val.46.No.4·诊疗方案·囊性纤维化诊断与治疗中国专家共识(2023版)囊性纤雏化诊断与治疗中国专家共识编写组中国罕见病联盟呼吸病学分会中国支气管扩张症临床诊治与研究联盟通信作者：田欣伦，中国医学科学院北京协和医学院北京协和医院疑难重症及罕见病国家重点实验室呼吸与危重症医学科，北京100730，Email:xinlun_t@sina.com【摘要】囊性纤维化(CF)是高加索人常见的常染色体隐性遗传病之一，中国C下患者罕见，于2018年被列入中国首批罕见病目录。近年来，C在中国逐步被认识，中国近10年报道的CF患者数超过了之前30年总和的2.5倍，预计总人数超过2万例。针对C下基因修饰的研究进展带来了C下治疗的革新。然而，汗液氯离子测定作为CF的重要诊断依据目前尚未普及，中国CF的诊治亦缺乏规范化的推荐意见，亟待编写相关共识。囊性纤维化诊断与治疗中国专家共识编写组在充分收集意见、查阅文献、多次线下和线上讨论的基础上，形成了囊性纤维化诊治中国专家共识。本共识收集了38个CF相关的核心问题，内容包括发病机制、流行病学、临床特征、诊断、治疗和康复以及患者管理等。最终形成了32条推荐意见。共识使用调整后的推荐分级的评估、制定和评价(GRADE)方法对证据评价和推荐意见进行分级。希望通过本共识，助力提高中国CF的诊断和治疗水平。基金项目：北京协和医院中央高水平医院临床科研专项(2022-PUMCH-B-107);中国医学科学院医学与健康科技创新工程(2021-2M-1-003,2021-2M1-056)01Chinese experts consensus statement:diagnosis and treatment of cystic fibrosis (2023)Chinese Experts Cystic Fibrosis Consensus Committee:Chinese Alliance for Rare Lung Diseases;ChineseAlliance for Rare Diseases,Bronchiectasis-ChinaCorresponding author:Tian Xinlun,Department of Pulmonary and Critical Care Medicine,ChineseAcademy of Medical Sciences,Peking Union Medical College,Peking Union Medical College HospitalBeijing 100730,China,Email:xinlun_t@sina.comAbstract Cystic fibrosis (CF)is one of the most common autosomal recessive geneticdiseases in Caucasians,but CF patients in China are rare,and it was listed as the first batch of rarediseases in China in 2018.In recent years,CF has been gradually recognized in China,and thenumber of CF patients reported in China in the past 10 years is more than 2.5 times the total numberin the previous 30 years,and the total number of CF patients is estimated to be more than 20 000.The research progress of CF gene modification has led to the innovation of CF treatment.However,the sweat test as an important test for the diagnosis of CF has not been widely implemented inChina.At present,the diagnosis and treatment of CF in China still lacks standardizedrecommendations.In view of these updates,the Chinese Experts Cystic Fibrosis ConsensusCommittee has formed "the Chinese experts consensus statement:diagnosis and treatment of cysticfibrosis"based on extensive opinion gathering,literatures review,multiple meetings anddiscussions.This consensus collects 38 core issues related to CF,including pathogenesis,D01:10.3760/cma.j.cn112147-20221214-00971收稿日期2022-12-14本文编辑蔡蜀菁引用本文：囊性纤维化诊断与治疗中国专家共识编写组，中国罕见病联盟呼吸病学分会，中国支气管扩张症临床诊治与研究联盟.囊性纤维化诊断与治疗中国专家共识(2023版)[中华结核和呼吸杂志，2023.464h352-372.D0L:10.3760/cma.j.cm112147-20221214-00971.