Genetic disorders of surfactant homeostasis.
Pulmonary surfactant reduces surface tension at the air-liquid interface in the alveolus, thereby maintaining lung volumes during the respiratory cycle. In premature newborn infants, the lack of surfactant causes atelectasis and respiratory failure, characteristic of respiratory of distress syndrome. Surfactant is comprised of lipids and associated proteins that are required for surfactant function. Surfactant proteins B and C and a lamellar body associated transport protein, ABCA3 play critical roles in surfactant synthesis and function. Mutations in the genes encoding these proteins cause lethal respiratory distress in newborn infants. This review discusses the clinical and pathological findings associated with these inherited disorders of alveolar homeostasis.
Whitsett
Jeffrey A
JA
Division of Pulmonary Biology, MLC 7029, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA. jeff.whitsett@cchmc.org
D018528:ATP-Binding Cassette Transporters / Q000378:metabolism; D006706:Homeostasis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000172:deficiency / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics* / Q000378:metabolism
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C