Nonclassic cystic fibrosis and CFTR-related diseases

被引：68

作者：

Boyle, MP ^{[1
]}

机构：

[1] Johns Hopkins Univ, Johns Hopkins Adult CF Program, Div Pulm & Crit Care Med, Sch Med, Baltimore, MD 21205 USA

来源：

CURRENT OPINION IN PULMONARY MEDICINE | 2003年 / 9卷 / 06期

关键词：

cystic fibrosis; cystic fibrosis transmembrane conductance regulator; phenotype; genotype; diagnosis;

D O I：

10.1097/00063198-200311000-00009

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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.

引用

页码：498 / 503

页数：6

共 40 条

[1] Determination of the relative contribution of three genes -: the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene -: to the etiology of idiopathic chronic pancreatitis [J].