中国人囊性纤维化

Cystic fibrosis in Chinese patients

近年来,囊性纤维化(cystic fibrosis,CF)在中国人中诊断例数明显增加。与欧美CF不同,中国人CF临床症状不典型,常仅见支气管扩张,胰腺外分泌功能不全较少见,采用欧美常用的基因筛查包不能检出中国常见的基因型,容易误诊漏诊。CF的治疗经验来自于欧美,中国患者的治疗经验普遍不足,也缺乏特异性治疗。该文对中国CF的流行病学、临床表现、诊断、治疗等方面的进展进行综述,以提高临床医生对本病的认识,做到早诊断、早治疗,降低病死率。

The reported number of cystic fibrosis(CF)patients in China has increased significantly in recent years.The clinical symptoms of Chinese CF,unlike in Western world,are not typical,in which bronchiectasis may be the only manifestation and pancreatic exocrine insufficiency is rare.The common genotypes in Chinese cannot be detected by using the gene screening package which are routinely used in Western World.As a result,the disease is often misdiagnosed or can’t,be diagnosed.The treatment experiences of CF anr based on Caucasian population,and clinicians are generally in lack of treatment experiences for Chinese CF patients,and there is no specific treatment.This article reviews the progress in epidemiology,clinical manifestations,diagnosis and treatment of CF in China in order to improve clinicians'understanding of the disease and achieve early diagnosis and treatment,and reduce mortality.