Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
case_series · Level IV
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- Record sourced from PubMed, PMID 17517255.
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Abstract
Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).
Medical subject headings
- ATP-Binding Cassette Transporters
- Pulmonary Surfactant-Associated Protein B
- Pulmonary Surfactant-Associated Protein C
- Pulmonary Surfactants
- Respiratory Distress Syndrome, Newborn
- Sequence Analysis, DNA