Genetic disorders of surfactant proteins.
Inherited disorders of pulmonary surfactant-associated proteins are rare but provide important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children. The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed.
Hamvas
Aaron
A
Edward Mallinckrodt Department of Pediatrics, Washington University and St. Louis Children's Hospital, St. Louis, MO 63110, USA. hamvas@kids.wustl.edu
Cole
F Sessions
FS
Nogee
Lawrence M
LM
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000473:pathology; D008171:Lung Diseases / Q000235:genetics*; D016040:Lung Transplantation; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009154:Mutation; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics* / Q000473:pathology / Q000601:surgery
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037721:Pulmonary Surfactant-Associated Protein C; D037661:Pulmonary Surfactant-Associated Proteins