Southern Kevin W
Royal Liverpool Children's Hospital, Institute of Child Health, University of Liverpool, Liverpool, UK.
Respiration. 2007;74(3):241-51. doi: 10.1159/000102068.
Cystic fibrosis (CF) is the commonest genetic cause of bronchiectasis in the Caucasian population. Since identification of the putative gene in 1989, the molecular basis of the condition has become clearer with characterisation of the unique pathophysiology. The small airways are the primary site of lung disease, with an intense but localised inflammatory picture, dominated by neutrophils. The clinical heterogeneity is explained to some degree by the distinct molecular consequences of the many mutations that have been recognised to affect the CF transmembrane conductance regulator (CFTR) gene; however other genes appear to modify the phenotype as well as environmental exposure. It has become increasingly apparent that certain conditions may result from CFTR dysfunction without fulfilling diagnostic criteria for CF. In some cases this may result in single organ disease for which the term CF (or CFTR)-related disease has been advocated. Congenital bilateral absence of the vas deferens is the most clearly characterised of these. In other cases where a mild CF phenotype is apparent, atypical CF is probably a better term. It remains unclear whether carrier status predisposes to certain conditions such as chronic rhinosinusitis or pancreatitis.
囊性纤维化（CF）是白种人群中支气管扩张最常见的遗传病因。自1989年确定可能的致病基因以来，随着独特病理生理学特征的描述，该病的分子基础已变得更加清晰。小气道是肺部疾病的主要部位，呈现强烈但局限的炎症表现，以中性粒细胞为主。临床异质性在一定程度上可由已确认影响CF跨膜传导调节因子（CFTR）基因的众多突变所产生的不同分子后果来解释；然而，其他基因以及环境暴露似乎也会改变表型。越来越明显的是，某些情况可能由CFTR功能障碍导致，但不符合CF的诊断标准。在某些情况下，这可能导致单器官疾病，对此有人主张使用术语CF（或CFTR）相关疾病。先天性双侧输精管缺如是其中特征最明确的一种。在其他出现轻度CF表型的情况下，非典型CF可能是一个更好的术语。目前尚不清楚携带者状态是否易患某些疾病，如慢性鼻窦炎或胰腺炎。
