Médecine pulmonaire et respiratoire

Cystic Fibrosis Demystified: From Diagnosis to Treatment

Abstract

Alexandra Goetz

Cystic Fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which leads to the production of thick, sticky mucus that can clog the airways and obstruct the pancreas. This result in respiratory symptoms such as chronic coughing, frequent lung infections, and difficulty breathing, as well as digestive issues such as poor growth, difficulty gaining weight, and malabsorption of nutrients. CF is a lifelong condition with no cure, but treatment aims to manage symptoms, prevent complications, and improve quality of life. Therapies may include medications to thin mucus, antibiotics to treat infections, nutritional support, airway clearance techniques, and lung transplant in severe cases. Early diagnosis and comprehensive care from a multidisciplinary team of healthcare professionals can help individuals with CF live longer and healthier lives.