囊性纤维化的发病机制和分子调节治疗的研究进展  

Advances in the pathogenesis and molecular regulatory therapy of cystic fibrosis

作　　者：王昊[1] 徐保平[1] Wang Hao;Xu Baoping(Department of Respiratory Disease I,Beijing Children′s Hospital,Capital Medical University,China National Clinical Research Center for Respiratory Diseases,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,国家呼吸系统疾病临床研究中心,首都医科大学附属北京儿童医院呼吸一科,北京100045

出　　处：《中华实用儿科临床杂志》2022年第22期1721-1723,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：北京市医院管理中心儿科学科协同发展中心专项经费(XTZD20180104)。

摘　　要：囊性纤维化(CF)是一种常染色体隐性单基因遗传病,由于囊性纤维化跨膜传导调节蛋白(CFTR)基因纯合和双重杂合突变所致。CFTR基因编码的是一种氯离子通道蛋白,分布于气道、胰腺导管上皮等部位,其功能异常将产生一系列临床表现。近10年来针对CFTR功能缺陷这一源头问题的特异性分子调节治疗取得了令人瞩目的成果。CF也因此成为一种模式疾病,为其他罕见的遗传疾病在遗传学、分子和细胞发病机制以及药物研发方面开创了新路线。现就近年来CF的发病机制以及分子调节治疗的最新研究进展进行综述,旨在提高广大医师对该病机制的认识,了解分子调节治疗。Cystic fibrosis(CF)is an autosomal recessive monogenetic disease caused by homozygous and double-heterozygous mutations of the cystic fibrosis transmembrane conductance regulator(CFTR)gene.The CFTR gene encodes a chloride ion channel protein,which is distributed in the airway,pancreatic duct epithelium and other body parts.CFTR dysfunction will give rise to a series of clinical manifestations.Remarkable achievements have been made in specific molecular regulatory therapy targeting CFTR dysfunction over the past 10 years.CF has thus become a model disease,which provides new approaches for the research on genetics,molecular and cellular pathogenesis,and drug discovery of other rare genetic diseases.In this article,the latest research progress on the pathogenesis and molecular regulatory therapy of CF in recent years was reviewed to improve clinical understanding of the disease mechanism and molecular regulatory therapy.

关 键 词：囊性纤维化跨膜传导调节蛋白 基因 分子治疗 

分 类 号：R596.2[医药卫生—内科学]