[Novel therapeutic possibilities in cystic fibrosis].Pol Merkur Lekarski 2006; 20(119):586-90PM
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in cystic fibrosis transport regulator (CFTR) gene. The clinical picture is characterized mainly by: bronchopulmonary disease (BPD), exocrine pancreatic insufficiency, hepatobiliary disease, meconium ileus, malnutrition and congenital bilateral absence of vas deferens. Life-span is closely related to respiratory system status, thus the treatment of the BPD is the key element of the management of CF. BPD is characterized by progressive destruction of bronchopulmonary tissues. It is due to chronic inflammation which, in turn, is caused by chronic colonization/infection by typical pathogens, such as Pseudomonas aeruginosa, Staphylococcus aureus and Burkholderia cepacia. The end stage of the BPD is the respiratory insufficiency and death. Management of BPD is complex, but two main aspects can be distinguished: treatment of exacerbations and chronic therapy. The first one is based on aggressive antibiotic treatment. The second one includes: chronic antibiotic administration, mucolytic therapy, control of bronchial hyperreactivity, anti-inflammatory treatment, oxygen supplementation and physiotherapy. The huge progress in management of cystic fibrosis achieved in last years can be proved by the fact that the mean life-span of patients increased from about 20 years in early seventies to nearly 50 years nowadays.