囊性纤维化诊断与治疗中国专家共识(2023版)  

Chinese experts consensus statement:diagnosis and treatment of cystic fibrosis(2023)

作　　者：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 陈莉娜[2] 冯瑞娥[3] 李宏军[3] 李景南[3] 李融融[3] 刘雅萍[4] 钱莉玲[5] 申月琳[6] 宋元林[7] 田代印 田欣伦[9] 徐金富 徐凯峰[3] 张路[3] 张伟宏[3] 朱惠娟[3] Chinese Experts Cystic Fibrosis Consensus Committee;Chinese Alliance for Rare Lung Diseases;Chinese Alliance for Rare Diseases,Bronchiectasis-China

机构地区：[1]不详 [2]四川大学华西第二医院 [3]中国医学科学院北京协和医院 [4]中国医学科学院北京协和医学院基础医学研究所 [5]复旦大学附属儿科医院 [6]首都医科大学附属北京儿童医院 [7]上海复旦大学附属中山医院 [8]重庆医科大学附属儿童医院 [9]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 [10]同济大学附属上海市肺科医院

出　　处：《中华结核和呼吸杂志》2023年第4期352-372,共21页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：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-I2M-1-003,2021-I2M-1-056)。

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CF患者罕见,于2018年被列入中国首批罕见病目录。近年来,CF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CF基因修饰的研究进展带来了CF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。Cystic fibrosis(CF)is one of the most common autosomal recessive genetic diseases in Caucasians,but CF patients in China are rare,and it was listed as the first batch of rare diseases in China in 2018.In recent years,CF has been gradually recognized in China,and the number of CF patients reported in China in the past 10 years is more than 2.5 times the total number in the previous 30 years,and the total number of CF patients is estimated to be more than 20000.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 in China.At present,the diagnosis and treatment of CF in China still lacks standardized recommendations.In view of these updates,the Chinese Experts Cystic Fibrosis Consensus Committee has formed“the Chinese experts consensus statement:diagnosis and treatment of cystic fibrosis”based on extensive opinion gathering,literatures review,multiple meetings and discussions.This consensus collects 38 core issues related to CF,including pathogenesis,epidemiology,clinical characteristics,diagnosis,treatment,rehabilitation,and patient management.Finally,32 recommendations were formulated.The consensus used the modified GRADE methodology to grade the evidence evaluation and recommendations.This is the current state of CF consensus in China,and we hope to improve the diagnosis and treatment of CF in China in the future.Summary of recommendations Question 1:How can CF be identified?CF should be suspected if there is:(1)a family history of CF;(2)delayed meconium expulsion or meconium ileus;(3)pancreatic exocrine insufficiency,mainly characterized by long-standing steatorrhea and malnutrition;(4)recurrent lower respiratory tract infections of infantile onset,especially Pseudomonas aeruginosa(PA),Staphylococcus aureus infections of respiratory aetiology;(5)chronic sinusitis,especially when combined with juvenile presentation of nasal polyps;(6)chest CT abnormalities such as the presence

关 键 词：囊性纤维化 中国专家共识 推荐意见 罕见病 证据评价 流行病学 氯离子测定 发病机制 

分 类 号：R596.1[医药卫生—内科学]