Mechanisms of cystic fibrosis lung disease.

Cystic fibrosis is a common genetic disorder caused by mutations of the cys tic fibrosis transmembrane conductance regulator (CFTR) gene. Although the link between the mutations of the CFTR gene and the progressive lung diseas e is riot completely understood, noteworthy advances have been made in the understanding of the mechanisms underlying lung injury in CF. The pathophys iologic cascade starts with CFTR dysfunction resulting from mutations of th e CFTR gene, and lending to abnormal ion and water transport across airway epithelia. Abnormal airway surface liquid may in turn lead to impairment of mucooiliary clearance, airway mucosal anti-microbial defenses, chronic bac terial infection and inflammation Each of these steps has been elucidated i n more detail in the recent years. This is of relevance from a therapeutic viewpoint. New therapeutic interventions include gene therapy, agents that may circumvent the defect in intracellular processing of mutated CFTR, agen ts that may modulate defects in epithelial ion transport, and anti-inflamma tory agents.