Cystic Fibrosis: Clinical Characteristics, Molecular Mechanisms and Treatment

Cystic Fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems. This chapter provides a comprehensive overview of CF, including its pathophysiology, clinical manifestations, diagnosis and treatment. CF is caused by mutations in the CFTR gene, which encodes the cystic fibrosis transmembrane conductance regulator protein. This protein is crucial for the regulation of chloride and sodium ions across epithelial membranes. Mutations lead to the production of thick, sticky mucus that clogs the airways and various channels throughout the body.
This chapter describes the main symptoms of CF, including chronic cough, progressive lung damage due to recurrent lung infections, and gastrointestinal problems such as pancreatic enzyme deficiency, malabsorption, and meconium ileus in newborns. CF can also affect the liver, sweat glands, and reproductive system. Diagnostic criteria for CF are discussed and the importance of newborn screening, sweat chloride testing, and genetic testing is emphasized. This chapter also reviews current treatment options aimed at managing symptoms and improving quality of life. The role of CFTR modulators, a new class of drugs targeting the underlying genetic disorder, is also highlighted and concludes with a discussion of new therapies and ongoing research aimed at finding a cure for CF.