• CF is a commonly diagnosed genetic disease caused by disruption of cellular chloride transport through abnormal function of the CFTR gene protein. • CF may affect multiple organ systems severely, leading to chronic sinopulmonary infections, impairment of growth, liver disease, and diabetes. • Positive CF NBS identifies children at risk for the diagnosis of CF and always requires additional confirmatory testing with sweat chloride or genetic testing. • Primary therapies in CF focus on methods to promote airway clearance of mucus, suppression of bacterial growth, and optimization of nutritional status. • The prognosis for individuals born with CF continues to improve markedly over time through coordinated use of early and aggressive therapies toward common complications.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health