pediatrics
Cystic Fibrosis
Key Points
Cystic fibrosis is caused by carrying 2 variants of the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), which regulates chloride, sodium, and bicarbonate transport across epithelial membranes. The main complications involve the lungs, with damage to the small and large airways, chronic inflammation, and chronic and recurrent bacterial infections, particularly byPseudomonas aeruginosa. Other major consequences include pancreatic insufficiency, leading to malabsorption of nutrients and vitamins with consequent impaired growth and development, and, in older patients, a risk for developing diabetes. Airway clearance measures (eg, postural drainage, percussion, vibration, assisted coughing), mucolytics, and airway hydrators are often started in early childhood; regular aerobic exercise is recommended. Medications that correct or potentiate CFTR (CFTR modulators) can improve health outcomes for patients who have certain CFTR variants. Antibiotics are given early in any pulmonary exacerbation; medication selection may be based on culture and sensitivity testing. Diet should be supplemented with pancreatic enzymes, high-dose vitamins, and 30 to 50% more calories derived primarily from fat. 