[Mucoviscidosis: progress in the diagnosis and management].
Cystic fibrosis (CF) is the most common severe autosomal recessive disorder amongst Caucasian populations. We have learned a great deal on CF during the past 20 years, mainly with the identification of the CFTR gene in 1989. In the same time, improvements in the therapeutic management dramatically changed its clinical outcome: while in 1946 the median survival was 4-5 years, in 2,000, it reaches 30 years in reference centers. Since the prognosis depends on respiratory functions, a large number of clinical trials were designed to improve them; medical, physiotherapic, and surgical interventions such as a bipulmonary grafts allowed to slow the natural decline of respiratory functions. Early diagnosis and maintaining optimal nutrition such as bipulmonary grafts allowed to slow the natural decline of respiratory functions. Early diagnosis and maintaining optimal nutrition are two other determining factors of prognosis. Nowadays the next step is to resolve the problem of the benefit of gene therapy but no significant progress was observed in that field for the past five years.
Service de Pédiatrie A-Centre Hospitalier Universitaire de Caen.
J F
JF
Duhamel
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000628:therapy*; D004032:Diet; D006801:Humans; D007223:Infant; D007231:Infant, Newborn