Volume 29, Issue 156, February 2025

Cystic fibrosis: Genetic basis, symptoms and chronic treatment

Izabela Zarecka^1♦, Wafa Al-Batool¹, Hiba Al-Batool¹, Aisha Hassan², Sara Hassan³, Szymon Bienia³, Aleksandra Kossakowska², Jakub Leicht², Klaudia Konieczna⁴

¹Wroclaw Medical University, wyb. Ludwika Pasteura 1, 50-367 Wrocław, Poland
²Cardinal Stefan Wyszyński University in Warsaw, Wóycickiego 1/3, 01-938 Warsaw, Poland
³Medical University of Silesia, Medyków 18, 40-752 Katowice, Poland
⁴Medical University of Silesia, Dr. Henryka Jordana 19, 41-808 Zabrze, Poland

^♦Corresponding Author
Wroclaw Medical University, wyb. Ludwika Pasteura 1, 50-367 Wrocław, Poland

ABSTRACT

Cystic fibrosis (CF) is a common genetic condition caused by mutations in the CFTR gene, which leads to thick, sticky mucus that obstructs various organ systems, especially the lungs and gastrointestinal tract. Mutations are categorized into six classes, with Class I–III associated with severe disease. Key symptoms include respiratory infections, pancreatic insufficiency, malabsorption, and male infertility. Chronic treatments focus on airway clearance, nutrition, and infection control. Airway clearance techniques like Specific Cough Technique (SCT), Forced Expiration Technique (FET), Positive Expiratory Pressure (PEP) therapy, and The Active Cycle of Breathing Technique (ACBT) are crucial to managing mucus build-up, complemented by physical activity. Mucolytics such as dornase alfa, hypertonic saline, and mannitol improve mucus clearance and respiratory function. Antibiotics address bacterial infections, particularly Pseudomonas aeruginosa, though antibiotic resistance remains a challenge. CFTR modulators target the specific protein defect. The treatment strategy also includes nutritional supplementation due to fat-soluble vitamin deficiencies and the need for pancreatic enzyme supplementation. Developments in CF management have improved life expectancy and quality of life. Unfortunately, there are still difficulties to overcome. This review examines the genetics, symptoms, and lifelong treatment in CF patients.

Keywords: Cystic Fibrosis (CF), CFTR Modulators, Airway Clearance Therapy (ACT), Antibiotic Resistance, Pancreatic Insufficiency

Medical Science, 2025, 29, e34ms3484

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DOI: https://doi.org/10.54905/disssi.v29i156.e34ms3484

Published: 15 February 2025