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囊性纤维化:当前概念

Cystic fibrosis: current concepts.

作者信息

Abrons H L

机构信息

Section of Pulmonary and Critical Care Medicine, West Virginia University School of Medicine, Morgantown.

出版信息

W V Med J. 1993 Jun;89(6):236-40.

PMID:7686701
Abstract

Cystic fibrosis (CF), a common fatal genetic disease, is a multisystem disorder whose pathogenesis has recently been linked to defects in CFTR, a newly discovered protein. CFTR is a molecular channel which controls chloride concentration in secretions of the sweat glands and the respiratory, GI, and reproductive tracts. Defective forms of CFTR, arising from various mutations in its gene, are responsible for the inadequate hydration of mucus, pancreatic juice, and other exocrine secretions. The result is dysfunction of the lungs, pancreas, and other involved organs. This article describes the diagnosis, clinical features, and approach to management of CF.

摘要

囊性纤维化(CF)是一种常见的致命性遗传病,是一种多系统疾病,其发病机制最近被认为与一种新发现的蛋白质CFTR的缺陷有关。CFTR是一种分子通道,可控制汗腺以及呼吸道、胃肠道和生殖道分泌物中的氯离子浓度。CFTR基因的各种突变产生的缺陷形式导致黏液、胰液和其他外分泌分泌物的水化不足。结果是肺、胰腺和其他受累器官功能障碍。本文描述了CF的诊断、临床特征及管理方法。

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