Genetic mechanisms of surfactant deficiency.
The production of pulmonary surfactant is necessary to maintain alveolar stability and normal lung function. Mutations in three different genes important for surfactant production and function have now been recognized to result in surfactant deficiency and acute and/or chronic lung disease. The clinical and laboratory features associated with these genetic disorders, along with their implications for the understanding of normal surfactant metabolism, are reviewed.
Nogee
Lawrence M
LM
Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3200, USA. lnoggee@jhmi.edu
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000235:genetics*; D009154:Mutation; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency / Q000235:genetics; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D037661:Pulmonary Surfactant-Associated Proteins / Q000172:deficiency* / Q000235:genetics*; D011663:Pulmonary Surfactants; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D037661:Pulmonary Surfactant-Associated Proteins; D011663:Pulmonary Surfactants