Progress of cystic fibrosis

X. Ji, Li Huang, Zhipeng Du, Weijie Li, Fushun Yang
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Abstract

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. Key words: Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Sweat chloride test; Gene diagnosis
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囊性纤维化的进展
囊性纤维化(CF)是一种常染色体隐性遗传病,在亚洲发病率低。中国尚无CF发病率的流行病学统计资料。CF可导致全身多系统功能障碍。基因检测作为一种安全、快速、简便的方法,在CF诊断中越来越重要。然而,中国人群的基因突变谱尚未提出。多学科联合治疗和基因治疗是CF研究的新方向。目前,尚无适合中国人群的指南和疾病管理方法。本文综述了国内的现状、发病机制、临床表现、基因诊断和治疗。关键词:囊性纤维化;囊性纤维化跨膜电导调节剂;汗液氯化物试验;基因诊断
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