Cystic fibrosis in the young and old: The future is precision medicine

Background:

Cystic fibrosis (CF) is an autosomal recessive genetic disorder that leads to impairment in function of the CF transmembrane conductance regulator (CFTR), a chloride channel that normally resides in the apical membranes of exocrine gland cells. Dysfunction of these channels leads to broad phenotypes characterized by increased thickness of secretions in the aero-respiratory, hepatobiliary, pancreatic, gastrointestinal, and reproductive organ systems among others. Since its first description as a clinical entity with pathologic cystic changes and fibrosis of the pancreas, CF has been associated with shortened life expectancy, with progressive respiratory infections and failure as the most common cause of death.

Methods:

Literature review was performed using relevant search terms to identify articles for inclusion in this brief review focusing on diagnosis, available treatments, and future potential targets of precision medicine.

Results:

Fortunately, there has been a tremendous collaborative effort among people with CF (pwCF), their families, care providers, and the scientific community to develop therapies to relieve symptoms, treat infections and inflammation, and improve nutrition, which results in a robust improvement in longevity of pwCF. Since the discovery and sequencing of the CFTR gene in 1989, treatment focus has shifted to develop therapeutics that restore function of mutated channels and, thus, treat the underlying cause of CF.

Conclusion:

This article provides a brief review of the clinical symptoms of CF, diagnostic strategies, currently approved treatments, and future targets of precision medicine to restore CFTR function.