Cystic fibrosis: pathogenesis and future treatment strategies

Abstract

Since the detection of the underlying gene defect, our knowledge of how the genetic mutations in cystic fibrosis cause lung disease has increased substantially, but we still lack a complete understanding of some of the pieces in the puzzle. Nevertheless, the information gained has led to new therapeutic approaches that address key factors of cystic fibrosis pathophysiology. Past therapeutic successes were largely based on targeting the consequences of the cystic fibrosis transmembrane regulator dysfunction, such as phlegm retention, infection, and inflammation, but new therapies may be able to address the underlying abnormality rather than its downstream effects. The efficacy of these treatments still needs to be established, but early studies look promising for several compounds. This review summarizes our current understanding of the pathophysiology and treatment of cystic fibrosis lung disease.