CYSTIC FIBROSIS: PATHOGENESIS, DIAGNOSIS, AND THERAPEUTIC INNOVATIONS

Abstract

Cystic fibrosis (CF) is a hereditary autosomal recessive genetic disorder that primarily affects the respiratory and digestive systems, caused by mutations in the CFTR gene. The disease's pathogenesis is complex and involves dysfunction of the exocrine glands, resulting in thick and viscous secretions that obstruct ducts in various organs. Symptoms range from mild to severe, including chronic lung infections, pancreatic insufficiency, and male infertility. Early diagnosis and therapeutic intervention are crucial for improving the quality of life and increasing the life expectancy of patients. In recent years, advances in treatment, such as the introduction of CFTR modulators, have revolutionized the approach to the disease, offering hope to many patients. However, significant challenges remain in managing CF, including accessibility to treatments and the management of long-term complications. This article reviews the current literature on the pathogenesis, diagnosis, treatment, and future perspectives of cystic fibrosis.