[Cystic fibrosis: review].
Cystic Fibrosis (CF) is the recessive autossomic disease more frequent in the caucasian race. The main characteristic is a mutation in CFTR, a trans-membranar protein, responsible for chlorates transportation. This protein has a diffuse epithelial distribution, which gives a multissistemic involvement to this disease, with clinical manifestations with variable degrees of severity. The development of better health care associated with new therapeutic options became responsible for an increase of survival, so CF is no longer a paediatric disease. Lung transplantation also has an important role, bringing new treatment perspectives. So, this pathology has an increased multi-disciplinary involvement in which the pulmonologist have a preponderant role.
Damas
C
C
Servico de Pneumologia do Hospital de Sao Joao, Porto, Portugal.
Amorim
A
A
Gomes
I
I
D001229:Aspergillosis, Allergic Bronchopulmonary / Q000209:etiology; D001649:Bile Duct Diseases / Q000209:etiology; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology; D005767:Gastrointestinal Diseases / Q000209:etiology; D006469:Hemoptysis / Q000209:etiology; D006801:Humans; D007246:Infertility / Q000209:etiology; D016040:Lung Transplantation; D009140:Musculoskeletal Diseases / Q000209:etiology; D011030:Pneumothorax / Q000209:etiology; D011379:Prognosis
D019005:Cystic Fibrosis Transmembrane Conductance Regulator