Diagnosis of cystic fibrosis in adults

摘要: Cystic fibrosis is a genetic recessive disorder caused by mutations in the gene that encodes CFTR protein. The diagnosis of cystic usually established early childhood but it now being made an increasing number adults. Many them present with mild or atypical clinical features, mostly lung disease. In addition, some adults congenital bilateral absence vas deferens idiopathic chronic pancreatitis may be assigned fibrosis. should based on presence one more characteristic history sibling, plus evidence defective function as documented elevated sweat chloride concentrations abnormal ion transport across nasal epithelium, identification both genes.