囊性纤维化研究进展

囊性纤维化(CF)是一种常染色体隐性遗传疾病,在亚洲发病率较低,中国尚无发病情况的流行病学统计数据。CF可导致全身多系统功能受累,基因检测作为一种安全、快速、易行的方法在CF诊断中越来越重要,但目前还未提出中国人群的基因突变谱。多学科联合治疗及基因治疗是现在CF的研究新方向。目前还未制定适合中国人群的治疗及疾病管理指南。现就我国CF研究现状、发病机制、临床表现、诊断及基因研究与治疗方面进行综述。

Progress of cystic fibrosis

Cystic fibrosis(CF)is an autosomal recessive hereditary disease with a low incidence in Asia.There are no epidemiological statistics on the incidence of CF in China.CF can lead to dysfunction in multi-system of the whole body.As a safe,fast and easy method,gene detection is becoming more and more important in CF diagnosis.However,the gene mutation spectrum of Chinese population has not yet been proposed.Multidisciplinary combination therapy and gene therapy are the new directions of CF study.At present,there are no guidelines and disease management suitable for the Chinese population.This article reviews the current situation,pathogenesis,clinical manifestations,gene diagnosis and treatment in China.