Genetic Disorders of Surfactant ProteinsHamvas A. · Cole F.S. · Nogee L.M.
aEdward Mallinckrodt Department of Pediatrics, Washington University and St. Louis Children’s Hospital, St. Louis, Mo., and bDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Md., USA
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.
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