Interní Med. 2014; 16(2): 54-60

Cystic fibrosis in adults

MUDr.Libor Fila, Ph.D.

Pneumologická klinika, 2. LF UK a FN Motol

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, involvement of the digestive tract with 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: cystic fibrosis, adults, diagnostics, therapy

Published: April 20, 2014  Show citation