Abstract
Cystic fibrosis (CF) is an inherited disease caused by mutations in the gene for transmembrane conductance regulator (CFTR). The disease leads to dysfunction of the glands of external secretion with high concentrations of chlorides in the sweat and the formation of abnormally viscous mucus in the respiratory, digestive and reproductive tract.
Clinically it is manifested by chronic sinopulmonary disease, pancreatic insufficiency, liver disease, disorders of bowel and nutritional status, salt loss syndrome and male infertility. The diagnosis uses demonstration of dysfunction of the CFTR protein by sweat test and examination of mutations in the CFTR gene.
Recently has been introduced also in the Czech Republic CF newborn screening. The treatment consists mainly of mucolytics inhalations and chest physiotherapy, aggressive antibiotic therapy and high caloric diet with pancreatic enzymes supplementation.
It is essential to prevent colonization of the airways by typical pathogens, especially P. aeruginosa. Modern methods of treatment lead to significant improvement of prognosis of patients and today-born children with CF have expected survival of 40-50 years.