非典型囊性纤维化和囊性纤维化跨膜传导调节因子相关疾病。
Nonclassic cystic fibrosis and CFTR-related diseases.
作者信息
Boyle Michael P
机构信息
Johns Hopkins Adult CF Program, Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
出版信息
Curr Opin Pulm Med. 2003 Nov;9(6):498-503. doi: 10.1097/00063198-200311000-00009.
PURPOSE OF REVIEW
To review the spectrum of disease caused by mutations in the cystic fibrosis (CF) gene.
RECENT FINDINGS
The growing recognition of "atypical" cases of cystic fibrosis presenting in adolescence or adulthood and manifested by disease in only one or two organ systems, along with CF diagnostic criteria based not only on sweat chloride values but genetic screening and nasal ion transport measurements, have made the diagnosis of CF less straightforward for many clinicians.
SUMMARY
This review seeks to clarify the key diagnostic criteria for CF and uses the Cystic Fibrosis Foundation's Consensus Diagnostic Guidelines and recent publications to discuss the characteristics of classic CF, nonclassic CF, and CFTR-related diseases.
综述目的
回顾由囊性纤维化（CF）基因突变引起的疾病谱。
最新发现
越来越多的“非典型”囊性纤维化病例在青少年期或成年期出现，仅在一两个器官系统表现出疾病症状，同时CF诊断标准不仅基于汗液氯化物值，还包括基因筛查和鼻离子转运测量，这使得许多临床医生对CF的诊断不再那么简单直接。
总结
本综述旨在阐明CF的关键诊断标准，并利用囊性纤维化基金会的共识诊断指南和近期出版物讨论经典CF、非经典CF以及CFTR相关疾病的特征。
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