Cor pulmonale in cystic fibrosis.

Cystic fibrosis is a common autosomal recessive disorder that is associated with a defective chloride transport channel in epithelial cells. The discovery of the cystic fibrosis gene in 1989 has led to a better understanding of the pathophysiology of the disease and the development of more effective therapeutic interventions. Chronic recurrent lung infections, pancreatic exocrine insufficiency, and elevated sweat chloride levels are hallmarks of the disease. Survival of patients with cystic fibrosis is steadily improving and most patients survive into adulthood. As lung disease progresses, secondary pulmonary hypertension and cor pulmonale are likely to develop. Pulmonary hypertension is correlated with the degree of hypoxemia and may be associated with increased mortality. The goal of therapy of cor pulmonale in cystic fibrosis is to correct hypoxemia and lower the elevated pulmonary artery pressures. This is best achieved by supplemental oxygen and aggressive treatment of the pulmonary disease with antibiotics and airway clearance techniques. It is also important to assess oxygenation during sleep and exercise. Bilateral lung transplantation is a treatment option for patients with end-stage lung disease, even in the presence of cor pulmonale.