Current Perspectives on Cystic Fibrosis: Pathogenesis, Management, and Therapeutic Advances

Abstract

Introduction: Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, leading to thick mucus buildup that primarily affects the respiratory and digestive systems. It results in chronic lung infections, malabsorption, and reduced life expectancy. Objectives: This review aims to explore CF’s pathophysiology, genetic basis, clinical manifestations, diagnostic advancements, and emerging treatment strategies. Methods: A systematic literature review was conducted using peer-reviewed sources from PubMed, NIH, and other medical databases, focusing on CFTR mutations, disease progression, and treatment innovations, including CFTR modulators and gene therapy. Results & Discussion: Advancements in CF diagnosis, such as newborn screening and genetic testing, enable early detection. Treatments include CFTR modulators, antibiotics, mucolytics, bronchodilators, and enzyme replacement therapy. Non-pharmacological approaches, such as airway clearance techniques and lung transplantation, further improve outcomes. Research in gene editing and personalized medicine offers hope for future breakthroughs. Conclusion: While CF remains a life-threatening condition, advancements in treatment and early diagnosis have significantly improved patient outcomes. Continued research in gene therapy and precision medicine holds promise for more effective and targeted therapies.

Keywords: Cystic Fibrosis, CFTR, Genetic Disorder, Lung Disease