The Journal of Pediactrics

The Journal of Pediatrics

Volume 125, Issue 3, September 1994, Pages 356–361

Original article

Surfactant protein B deficiency: Antenatal diagnosis and prospective treatment with surfactant replacement ^†

• MD Aaron Hamvas^{a, b, c, d, e,} ,
• MD F. Sessions Cole^{a, b, c, d, e},
• MD Daphne E. deMello^{a, b, c, d, e},
• PhD Michael Moxley^{a, b, c, d, e},
• MD Jeffrey A. Whitsett^{a, b, c, d, e},
• MD Harvey R. Colten^{a, b, c, d, e},
• MD Lawrence M. Nogee^{a, b, c, d, e}

• ^a Edward Mallinckrodt Department of Pediatrics, Washington University, St. Louis Children's Hospital, St. Louis, Missouri USA
• ^b Department of Pathology St. Louis University School of Medicine, St. Louis, Missouri USA
• ^c Department of Biochemistry, St. Louis University School of Medicine, St. Louis, Missouri USA
• ^d Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio USA
• ^e Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland USA

Received 11 March 1994, Accepted 26 April 1994, Available online 4 April 2006

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DOI: 10.1016/S0022-3476(05)83276-7

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An infant with a family history of congenital alveolar proteinosis associated with surfactant protein B (SP-B) deficiency was identified when SP-B was not detected in amniotic fluid obtained at 37, 38, and 40 weeks of gestation. Surfactant replacement with commercially available preparations that contained SP-B was begun soon after delivery. Progressive respiratory failure developed despite continued surfactant replacement, corticosteroid therapy, and extracorporeal membrane oxygenation. The infant died at 54 days of age while awaiting lung transplantation. Surfactant extracted from amniotic fluid, bronchoalveolar lavage fluid, and lung tissue had no phosphatidylglycerol; surface tension was 24 dynes/cm (normal, <10 dynes/cm) and did not decrease with in vitro addition of exogenous SP-B. Pulmonary vascular permeability measured with positron emission tomography was twice normal. At autopsy the alveolar proteinosis pattern was less prominent than that seen in affected siblings. Immunoreactivity of SP-B was absent in type II cells, but numerous foreign body granulomas with central immunoreactivity for SP-B and surfactant protein C were present. We conclude that exogenous surfactant replacement did not normalize surfactant composition, activity, or pulmonary vascular permeability. These findings suggest that endogenous SP-B synthesis is necessary for mature surfactant metabolism and function.

†

Supported in part by the American Lung Association of Eastern Missouri (A.H.), the American Lung Association (D.E.d.M.), the National Institutes of Health (NIH HL-34748 [D.E.d.M.], NIH HL-38859 [J.A.W.], and NIH HL-37591 [H.R.C.], and the March of Dimes Basil O'Connor Award (L.M.N.).

Reprint requests: Aaron Hamvas, MD, St. Louis Children's Hospital, Division of Newborn Medicine, One Children's Place, St. Louis, MO 63110.

Copyright © 1994 Published by Mosby, Inc.