Inherited disorders of surfactant metabolism are rare causes of respiratory disease in newborns but are associated with significant morbidity and mortality. This review outlines the molecular basis and pathophysiology of the three currently identified single-gene disorders of surfactant metabolism as well as the clinical presentations and evaluation of potentially affected infants. Implications for the understanding of normal surfactant metabolism and the potential roles of surfactant dysfunction mutations in more common neonatal disorders, such as respiratory distress syndrome, also are discussed.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health