Chinet T, Fajac I, Ferec C, Garcia Carmona T, Nguyen-Khoa T
Service de Pneumologie, Hôpital Ambroise Paré, Boulogne.
Rev Mal Respir. 2000 Aug;17(3 Pt 2):739-48.
Cystic fibrosis is a genetic recessive disorder caused by mutations in the gene that encodes the CFTR protein. The diagnosis of cystic fibrosis is usually established in early childhood but it is now being made in an increasing number of adults. Many of them present with mild or atypical cystic fibrosis clinical features, mostly lung disease. In addition, some adults with congenital bilateral absence of vas deferens or idiopathic chronic pancreatitis may be assigned a diagnosis of cystic fibrosis. The diagnosis of cystic fibrosis in adults should be based on the presence of one or more characteristic clinical features, a history of cystic fibrosis in a sibling, plus evidence of defective CFTR function as documented by elevated sweat chloride concentrations or abnormal ion transport across the nasal epithelium, or identification of mutations on both CFTR genes.
囊性纤维化是一种由编码CFTR蛋白的基因突变引起的常染色体隐性疾病。囊性纤维化的诊断通常在儿童早期确立，但现在越来越多的成年人也被诊断出患有此病。他们中的许多人表现出轻度或非典型的囊性纤维化临床特征，主要是肺部疾病。此外，一些患有先天性双侧输精管缺如或特发性慢性胰腺炎的成年人也可能被诊断为囊性纤维化。成年人囊性纤维化的诊断应基于存在一种或多种特征性临床特征、同胞中有囊性纤维化病史，以及通过汗液氯化物浓度升高或鼻上皮离子转运异常所记录的CFTR功能缺陷证据，或在两个CFTR基因上鉴定到突变。
