Voter Karen Z, Ren Clement L
Division of Pediatric Pulmonology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642, USA.
Clin Rev Allergy Immunol. 2008 Dec;35(3):100-6. doi: 10.1007/s12016-008-8078-x.
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency and chronic endobronchial infection. Although it was initially defined and diagnosed based on clinical features and sweat chloride measurement, an in vivo method of assessing CFTR function, the discovery of the CFTR gene in 1989 revealed a broad spectrum of CF phenotypes associated with specific CFTR gene mutations. In this article, we will review the indications for sweat testing, alternative techniques to diagnose CF, and the approach to patients with an ambiguous or indeterminate diagnosis of CF.
囊性纤维化（CF）是一种常染色体隐性疾病，由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起，该突变导致多个器官出现异常黏稠的黏液分泌，其主要临床特征为胰腺功能不全和慢性支气管感染。尽管最初是根据临床特征和汗液氯化物测量（一种评估CFTR功能的体内方法）来定义和诊断该病，但1989年CFTR基因的发现揭示了与特定CFTR基因突变相关的广泛CF表型。在本文中，我们将回顾汗液检测的适应证、诊断CF的替代技术，以及对CF诊断不明确或不确定的患者的处理方法。
