15/04/2024
Cystic fibrosis (CF) is a hereditary disorder affecting the exocrine glands, characterized by abnormal secretions leading to mucous buildup in the lungs and digestive system.
- Epidemiology:
• CF is most common in individuals of Caucasian descent, with an incidence of approximately 1 in 3,500 live births.
- Genetics:
• CF is caused by mutations in the CFTR gene, which encodes a chloride ion channel.
• The inheritance pattern is autosomal recessive, requiring two copies of the defective gene for the disease to manifest.
- Pathophysiology:
• Mutations in the CFTR gene result in dysfunctional chloride ion transport, leading to thick, sticky mucus in the respiratory, digestive, and reproductive systems.
- Clinical Features:
• Respiratory: Persistent cough, wheezing, dyspnea, recurrent pneumonia, bronchiectasis.
• Digestive: Pancreatic insufficiency, malabsorption, steatorrhea, failure to thrive, meconium ileus in newborns.
- Diagnostic Evaluation:
• Sweat chloride test: Elevated chloride levels confirm the diagnosis.
• Genetic testing: Identifies mutations in the CFTR gene.
• Pulmonary function tests: Assess lung function and monitor disease progression.
- Management:
• Pharmacotherapy: Mucolytics, bronchodilators, antibiotics (oral and inhaled), CFTR modulators (e.g., ivacaftor).
• Airway clearance techniques: Chest physiotherapy, oscillatory positive expiratory pressure devices.
• Nutritional support: Pancreatic enzyme replacement therapy, fat-soluble vitamin supplementation, high-calorie diet.
• Pulmonary rehabilitation: Exercise programs to improve respiratory function.