PEDIATRICS Vol. 96 No. 6 December 1995, pp. 1046-1052
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Partial Deficiency of Surfactant Protein B in an Infant With Chronic Lung Disease

Philip L. Ballard MD, PhD1, Lawrence M. Nogee MD2, Michael F. Beers MD3, Roberta A. Ballard MD4, Benjamin C. Planer MD4, Lori Polk RNC, MN, NNP4, Daphne E. deMello MD5, Michael A. Moxley PhD6, and William J. Longmore PhD6

1 Department of Pediatrics and Institute for Environmental Medicine, University of Pennsylvania, Children's Hospital of Philadelphia
2 Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland
3 Department of Medicine and Institute for Environmental Medicine, University of Pennsylvania, Children's Hospital of Philadelphia
4 Department of Pediatrics, University of Pennsylvania, Children's Hospital of Philadelphia
5 Department of Pathology, St Louis University
6 Department of Biochemistry and Molecular Biology, St Louis University

Objective. To evaluate components of pulmonary surfactant and identify mutations in the surfactant protein B gene (SP-B) of a term infant with severe respiratory distress and chronic lung disease.

Patient and Testing. Respiratory distress developed in an infant delivered at term, and he required extracorporeal bypass support for 2 weeks. Until his unexpected death at 9.5 months, he was ventilator and oxygen dependent and required continual dexamethasone therapy. Tracheobronchial lavage samples were analyzed for content of surfactant proteins (SPs), and DNA from blood samples were sequenced and analyzed by polymerase chain reaction restriction analysis for the presence of SP-B gene mutations. Surfactant lipid composition and function, the contents of SPs and their messenger RNAs (mRNAs), and the immunostaining pattern for SPs were determined in postmortem lung tissue.

Results. The lavage sample contained SP-A but not SP-B, and DNA restriction analysis indicated that the patient and his mother were heterozygous for the previously described 121ins2 mutation of SP-B. Postmortem lung tissue contained normal levels of SP-A and its mRNA, a low but detectable level of SP-B, and near normal content of SP-B mRNA. SP-C was abundant on staining, and some 6-kd precursor was present in tissue. A surfactant fraction was deficient in phosphatidylglycerol and was not surface active. On DNA sequencing, a point mutation was found in exon 7 of the patient's SP-B gene allele without the 121ins2 mutation, resulting in a cysteine for arginine substitution, and the father was a carrier for the same mutation.

Conclusions. We describe a patient who is a compound heterozygote with a new mutation and only a partial deficiency of SP-B. Some forms of inherited SP-B deficiency may have low expression of immunoreactive and possibly functional SP-B with milder lung disease and longer survival. These infants may benefit from glucocorticoid therapy and may not develop antibodies to SP-B after either lung transplant or gene therapy.

Submitted on June 7, 1995
Accepted on July 28, 1995




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