Abstract
To the Editor: We wish to report initial success in treating a boy with surfactant protein C deficiency. The patient was first admitted to the hospital at five months of age with severe respiratory distress that followed a viral respiratory infection. Open-lung biopsy revealed nonspecific interstitial pneumonitis, and DNA analysis revealed that the gene encoding surfactant protein C had a C-to-A substitution leading to an alanine-to-aspartate substitution at amino acid 116 in exon 4. The patient was discharged home in moderate respiratory distress; he was breathing oxygen at a rate of 2 to 3 liters per minute by nasal cannula . . .
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