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.

cystic fibrosis, CFTR gene, monogenic disease, hereditary disorders, pathogenesis, molecular therapy, personalized medicine, innovative treatment.

Elborn J.S. Cystic fibrosis // The Lancet. – 2016. – Vol. 388, No. 10059. – P. 2519–2531.

Ratjen F., Bell S.C., Rowe S.M. et al. Cystic fibrosis // Nature Reviews Disease Primers. – 2015. – Vol. 1. – P. 1–19.

Riordan J.R. CFTR function and prospects for therapy // Annual Review of Biochemistry. – 2008. – Vol. 77. – P. 701–726.

Cutting G.R. Cystic fibrosis genetics: from molecular understanding to clinical application // Nature Reviews Genetics. – 2015. – Vol. 16, No. 1. – P. 45–56.

Boyle M.P., De Boeck K. A new era in the treatment of cystic fibrosis // The Lancet Respiratory Medicine. – 2013. – Vol. 1, No. 2. – P. 158–163.

Rowe S.M., Miller S., Sorscher E.J. Cystic fibrosis // The New England Journal of Medicine. – 2005. – Vol. 352, No. 19. – P. 1992–2001.

Stoltz D.A., Meyerholz D.K., Welsh M.J. Origins of cystic fibrosis lung disease // The New England Journal of Medicine. – 2015. – Vol. 372, No. 4. – P. 351–362.

Ramsey B.W., Davies J., McElvaney N.G. et al. A CFTR potentiator in patients with cystic fibrosis // The New England Journal of Medicine. – 2011. – Vol. 365, No. 18. – P. 1663–1672.

Bell S.C., Mall M.A., Gutierrez H. et al. The future of cystic fibrosis care // The Lancet Respiratory Medicine. – 2020. – Vol. 8, No. 1. – P. 65–124.

Lopes-Pacheco M. CFTR modulators: the changing face of cystic fibrosis // Frontiers in Pharmacology. – 2020. – Vol. 10. – P. 1662–1674.