MONOGENIC GENETIC DISEASE: CYSTIC FIBROSIS — ETIOLOGY, PATHOGENESIS AND INNOVATIVE TREATMENT METHODS

Cystic fibrosis is one of the most common life-threatening monogenic hereditary disorders affecting multiple organ systems, primarily the respiratory and digestive systems. The disease is caused by mutations in the CFTR gene, which regulates chloride ion transport across epithelial membranes. Defective ion transport leads to abnormal secretion viscosity, chronic pulmonary infections, pancreatic insufficiency, and progressive organ damage. This article discusses the genetic basis, etiology, molecular pathogenesis, clinical manifestations, diagnostic principles, and modern innovative treatment approaches for cystic fibrosis. Particular attention is given to targeted molecular therapy, gene-modifying drugs, and recent advances in personalized medicine. The study demonstrates that innovative therapeutic strategies significantly improve life expectancy and quality of life in patients with cystic fibrosis.