Referenced in: none

Automatically associated channels: Kir2.3

Title: [Mucoviscidosis in adults]

Authors: M Stern, C Picard, D Grenet

Journal, date & volume: , 2002 Feb 16 , 31, 263-70

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11883371

Abstract
FROM CHILDREN TO ADULTS: Mucoviscidosis, a genetic autosomal recessive disease, is not only a paediatric disease, but with the progress in therapy, has become a disease of adults. Today, median survival of patients is of 30 years and, in France, more than one third of patients are adults. CLINICAL SYMPTOMS IN ADULTS: Are predominantly respiratory, with dilatation of the bronchi and characteristic colonization flora. Chronic bronchial Pseudomonas aeruginosa colonisation is frequently encountered in adults. It develops in successive episodes towards chronic respiratory failure. Other than this typical form, diagnosed in the first years of life, the discovery of the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene and its mutations permits diagnosis of mucoviscidosis in patients presenting with mild, or even monosymptomatic forms of the disease. Today, diagnosis of mucoviscidosis relies on the association of characteristic organ damage and an abnormality in CFTR (sweat test and/or difference in nasal potential) or the revelation of gene mutations on each allele. REGARDING TREATMENT: Respiratory failure is the core of daily therapeutic efforts. Respiratory physical therapy, effort re-education and muscle exercising are essential. Antibiotherapy is aimed at treating, spacing out or preventing the infectious exacerbations, in order to stall the functional degradation. Repeated, sequential cycles of intravenous infusions of antibiotics are required in P. aeruginosa chronic bronchial colonization. Treatment of the primary pyocyanic colonisation and inhaled antiobiotherapy appear promising. Pulmonary transplantation is a recognized and efficient therapeutic in advanced stages of respiratory failure. The discomfort and time the patient has to spend on daily treatments requires regular monitoring, to improve compliance and to improve the quality of life of these patients.