Advances in the management of cystic fibrosis

The gene defect responsible for cystic fibrosis (CF) causes impairment of chloride ion secretion, which is associated with sodium ions passing from the lumen into epithelial cells accompanied by water and leading to increased viscosity of luminal secretions. In the lower respiratory tract, which is the major site of morbidity and mortality in patients with CF, the thickened secretions lead to airway obstruction, infection, and destruction. Steady improvement in the prognosis of patients with CF has been achieved by combating pulmonary infection, improving bronchial drainage, and providing appropriate nutrition. However, with the discovery of the underlying gene abnormality and an increased understanding of the basic mechanisms involved in the pathogenesis of CF, a range of new treatment strategies has been developed. These strategies include gene therapy, aerosolized mucolytics, agents to correct ion-water transport abnormalities, and anti-inflammatory therapy. Lung transplantation is available for treatment of end stage lung disease. The management of sinonasal tract disease also has improved with better medical management and more extensive surgery.