Surfactant protein B deficiency: Clinical, histological and molecular evaluation

G. D. Williams, J. Christodoulou, J. Stack, P. Symons, S. E. Wert, M. J. Murrell, L. M. Nogee

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital alveolar proteinosis due to surfactant protein B deficiency is an inherited disease which results in severe respiratory failure in term infants soon after birth. The pathophysiologic basis of this disease is now known to be an inability to synthesise adequate quantities of normally functioning surfactant protein B. We report a male infant with fatal respiratory failure of neonatal onset, and histopathological features typical of those seen in congenital alveolar proteinosis. Molecular analysis of genomic DNA revealed two mutations, the 'common' 121ins2 mutation in exon 4, and a novel 2bp frameshift mutation in exon 5. We believe this is the first Australian case of surfactant protein B deficiency confirmed by molecular analysis.

Original languageEnglish (US)
Pages (from-to)214-220
Number of pages7
JournalJournal of Paediatrics and Child Health
Volume35
Issue number2
DOIs
StatePublished - May 7 1999

Keywords

  • Heteroduplex analysis
  • Mutation
  • Respiratory failure
  • Surfactant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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