[Cystic fibrosis in adulthood]

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations of the CFTR gene. The number of adult CF patients increased dramatically, since life expectancy is now around thirty years. CF is usually a pediatric disease. In adult patients the disease associate a diffuse bronchectasia with chronic colonisation of sputum with Pseudomonas aeruginosa, and pancreatic insufficiency. Mortality is usually related to respiratory insufficiency. One third of adult patients develop diabetes mellitus. A diagnosis of CF can be made in adult patients particularly when it exists male infertility with congenital absence of vas deferens, chronic sinusitis or diffuse bronchectasia or chronic pancreatitis, acute and recurrent pancreatitis, allergic bronchopulmonary aspergillosis. The diagnosis is established with positive sweat chloride concentration, or double CFTR mutations and/or other suggestive organ involvement.