Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
The Journal of Pediatrics(2017)
摘要
Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in fullterm neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.
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关键词
SP-B deficiency,SFTPB mutation,corticosteroids,child,case report
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