Vnitr Lek 2017, 63(11):834-842 | DOI: 10.36290/vnl.2017.156

Cystic fibrosis in adults

Libor Fila

Pneumologická klinika 2. LF UK a FN Motol, Praha

Cystic fibrosis (CF) is an inherited disease caused by mutations in the transmembrane conductance regulator (CFTR) gene. The disease leads to dysfunction of the exocrine glands with high concentration of chloride in the sweat and formation of abnormally viscous mucus in the respiratory, digestive and reproductive tract. Chronic sinopulmonary disease, exocrine pancreatic insufficiency, liver disease, intestinal obstruction, impaired nutritional status, salt loss syndrome and male infertility dominates in the clinical presentation. The examination of sweat chloride concentration and mutations in the CFTR gene is used in CF diagnostics for detection of CFTR protein dysfunction. The treatment comprises especially respiratory physiotherapy with mucolytics inhalations, aggressive antibiotic therapy and high-calorie diet together with adequate pancreatic enzymes substitution. The prevention of airway infection with resistant bacterial pathogens, particularly Pseudomonas aeruginosa, is a fundamental measure. Significant recent progress include the use of newborn screening of CF and drugs targeted to individual CFTR gene mutations in the clinical practise. The prognosis of patients has improved due to using of modern therapeutic methods in CF treatment centres. Children born at present time have survival probability 40-50 years.

Keywords: adults; cystic fibrosis; diagnostics; therapy

Received: August 21, 2017; Accepted: September 26, 2017; Published: November 1, 2017  Show citation