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。

abstractsCystic 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 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 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.