[Cystic fibrosis in 2008].
OBJECTIVE
To describe the epidemiological, physiopathological, clinical and therapeutic knowledge concerning cystic fibrosis (CF). Important modifications in the health organization of the care concerning this orphan disease have been implemented in France. The life expectancy has dramatically increased, as well as the knowledge concerning the pathological structure and function of the CFTR gene and protein. This will lead to the development of emerging drug treatments for this lethal disease.


BACKGROUND
The life expectancy is predicted to exceed 40 years for children born in the 2000s. As a result, there has been a tremendous growth of the adult population that reached 40% of the overall approximately 5000 patients included in the CF French registry (Observatoire National de la Mucoviscidose). Lung disease remains the primary cause of morbidity and mortality. The characteristic phenotypic presentation associates bronchial and rhinosinusal symptoms, pancreatic insufficiency and liver disease. Bronchial damage leads to progressive chronic respiratory insufficiency. Diabetes mellitus and osteoporosis frequently appears in adulthood. Neonatal screening has been implemented in France since 2002. It will prevent delayed diagnosis and its deleterious consequences. Some atypical cases of CF presenting only with one or two organ system involvement can be diagnosed in adulthood. Isolated chronic rhinosinusitis, bronchiectasis, congenital bilateral absence of vas deferens, recurrent pancreatitis, allergic bronchopulmonary aspergillosis, and some case of cholangitis may so revealed late form of cystic fibrosis.


CONCLUSIONS
The health care is organized in cystic fibrosis centres. Despite gene discovery, treatment still remains symptomatic, based on intensive pulmonary and nutritional treatments. Challenges for new treatments are to correct the basic defect, either by gene therapy or by pharmacological modulation of the abnormal physiological processes.
Durieu
I
I
Service de médecine interne, service adulte du centre de référence national de lyon, centre de ressource et de compétences de la mucoviscidose, centre hospitalier Lyon-Sud, 69495 Pierre-Bénite cedex, France. isabelle.durieu@chu-lyon.fr
Josserand
R Nove
RN
D000328:Adult; D003550:Cystic Fibrosis / Q000150:complications / Q000453:epidemiology* / Q000401:mortality / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005602:France / Q000453:epidemiology; D015316:Genetic Therapy; D006801:Humans; D008017:Life Expectancy; D008171:Lung Diseases / Q000209:etiology / Q000401:mortality; D009154:Mutation; D009752:Nutritional Status; D010641:Phenotype; D012042:Registries
D019005:Cystic Fibrosis Transmembrane Conductance Regulator