Med. praxi. 2024;21(3):135-145 | DOI: 10.36290/med.2024.018

Cystic fibrosis - diagnosis and treatment

MUDr. Eva Pokojová

Centrum cystické fibrózy, Klinika nemocí plicních a tuberkulózy, Fakultní nemocnice Brno

Lékařská fakulta, Masarykova univerzita, Brno

Cystic fibrosis (CF) is an inherited disease caused by a mutation in the transmembrane conductance regulator (CFTR) gene. A non-functional CFTR channel causes dysfunction of the exocrine glands resulting in a high concentration of chlorides in sweat and the accumulation of viscous secretions in the respirátory and digestive tract. Cystic fibrosis is typically a progressive respiratory disease and an impaired nutritional status of the patient due to exocrine pancreatic insufficiency. Up to 98 % of adult men are infertile due to obstructive azoospermia. The newborn screening of CF, the availability of innovative therapy with CFTR modulators (CFTRm), and the highly specialized center care lead to both the significantly improved quality of life and better prognosis of CF patients. The median survival probability for CF patients is currently 53 years. At the same time, the number of lung transplants is decreasing. On the other hand, the number of pregnancies among women with CF is increasing significantly.

Keywords: cystic fibrosis, diagnosis, treatment.

Received: February 20, 2024; Revised: May 23, 2024; Accepted: May 23, 2024; Published: June 17, 2024  Show citation