Pulmonary cystic fibrosis and its treatment approaches

Abstract

Cystic fibrosis (CF) is an autosomal recessive genetic disorder primarily affecting the lungs and digestive system, caused by mutations in the CFTR gene. This mutation leads to dysfunction of the exocrine glands, resulting in the production of thick secretions that obstruct the respiratory and pancreatic ducts. The main symptoms include chronic cough, recurrent lung infections, and malabsorption of nutrients. Early diagnosis and appropriate management are crucial for improving patients' quality of life and survival. Recent advances in CF treatment have focused on enhancing lung function and reducing infections. A multidisciplinary approach, incorporating respiratory physiotherapy, CFTR modulators, and inhalation therapies, is fundamental to effective management. Respiratory physiotherapy plays a key role in airway clearance and preventing exacerbations, while adequate nutritional support helps address malnutrition due to nutrient malabsorption. Chronic inflammation is a central feature of lung disease, contributing to progressive decline in lung function. Anti-inflammatory treatments, combined with antibiotics and CFTR modulators, help slow this process. Pulmonary exacerbations require early intervention with antibiotics and intensified physiotherapy. Physiotherapy techniques, such as Positive Expiratory Pressure (PEP) and Active Cycle of Breathing Techniques (ACBT), are essential for airway clearance and improving lung function. The introduction of CFTR modulators has significantly improved patient outcomes. Despite these advances, managing chronic infections and inflammation remains a challenge. Future advances in gene therapy and other innovative treatments hold promise, but the current multidisciplinary approach remains the best strategy to enhance life expectancy and quality of life for individuals with CF.