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Molecular Basis of Pulmonary Disease pp 247–265Cite as

Surfactant Deficiency Disorders: SP-B and ABCA3

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Part of the book series: Respiratory Medicine ((RM))

Abstract

Single gene disorders disrupting surfactant metabolism and resulting in acute and chronic lung disease have been identified in recent years. This review focuses on lung disease resulting from mutations in the genes encoding surfactant protein B (SP-B) and member A3 of the ATP-binding cassette (ABCA3) family of membrane transporters. The roles of these proteins in surfactant metabolism is reviewed, along with the epidemiology, molecular genetics, clinical features, natural history, lung pathology findings, approach to diagnosis, and treatment of the disorders resulting from mutations in these genes. Irreversible neonatal hypoxemic respiratory failure due to diffuse parenchymal lung disease is a common presentation of both disorders. Children with ABCA3 mutations may also present with relatively milder disease and findings of interstitial lung disease. While rare, these disorders result in significant respiratory morbidity and mortality, have provided insights into normal surfactant metabolism, and implicate these genes as having a role in more common lung diseases.

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Authors and Affiliations

  1. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Lawrence M. Nogee MD

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  1. Lawrence M. Nogee MD
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Editors and Affiliations

  1. Div. Pulmonary & Critical Care, University of Cincinnati, Albert Sabin Way 231, Cincinnati, 45267, USA

    Francis X. McCormack

  2. Div. Pulmonary & Critical Care, University of Cincinnati, Albert Sabin Way 231, Cincinnati, 45267, USA

    Ralph J. Panos

  3. Medical Center, Cincinnati Children's Hospital, Burnet Ave. 3333, Cincinnati, 45229, USA

    Bruce C. Trapnell

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Nogee, L.M. (2010). Surfactant Deficiency Disorders: SP-B and ABCA3. In: McCormack, F., Panos, R., Trapnell, B. (eds) Molecular Basis of Pulmonary Disease. Respiratory Medicine. Humana Press. https://doi.org/10.1007/978-1-59745-384-4_11

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  • DOI: https://doi.org/10.1007/978-1-59745-384-4_11

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-963-5

  • Online ISBN: 978-1-59745-384-4

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