Abstract
A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.
MeSH terms
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Female
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Humans
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Infant, Newborn
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Lung Transplantation
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Mutation
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Polymorphism, Single Nucleotide / genetics*
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Pulmonary Surfactant-Associated Protein C / genetics*
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Radiography
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Respiratory Distress Syndrome, Newborn / genetics*
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Respiratory Insufficiency / diagnostic imaging
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Respiratory Insufficiency / genetics*
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Respiratory Insufficiency / therapy
Substances
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Pulmonary Surfactant-Associated Protein C