Genetic mechanisms of surfactant deficiency

Research output: Contribution to journalArticlepeer-review

58 Scopus citations


The production of pulmonary surfactant is necessary to maintain alveolar stability and normal lung function. Mutations in three different genes important for surfactant production and function have now been recognized to result in surfactant deficiency and acute and/or chronic lung disease. The clinical and laboratory features associated with these genetic disorders, along with their implications for the understanding of normal surfactant metabolism, are reviewed.

Original languageEnglish (US)
Pages (from-to)314-318
Number of pages5
JournalBiology of the Neonate
Issue number4
StatePublished - 2004


  • Alveolar proteinosis
  • Infant, newborn
  • Interstitial lung disease
  • Mutation
  • Pulmonary surfactants
  • Respiratory distress syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Biology


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