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.
Aaron Hamvas, MD
Professor of Pediatrics
Division of Newborn Medicine, Washington University School of Medicine
660 S. Euclid Ave C.B. 8116, St. Louis, MO 63110 (USA)
Tel. +1 314 454 6148, Fax +1 314 454 4633, E-Mail email@example.com
Published online: June 7, 2007
Number of Print Pages : 7
Number of Figures : 0, Number of Tables : 1, Number of References : 71
Neonatology (Fetal and Neonatal Research)
Vol. 91, No. 4, Year 2007 (Cover Date: June 2007)
Journal Editor: Halliday, H.L. (Belfast)
ISSN: 1661–7800 (print), 1661–7819 (Online)
For additional information: http://www.karger.com/NEO