The expanded spectrum of genetic surfactant dysfunction disorders

Research output: Contribution to journalReview articlepeer-review


Pulmonary surfactant is the mixture of lipids and proteins needed for reducing surface tension in the alveoli at end expiration. Mutations in the genes encoding proteins critical for surfactant function and/or metabolism are rare but important causes of acute and chronic lung disease in children and adults, with disease onset ranging from immediately after birth to well into adulthood. Collectively these disorders are referred to as genetic surfactant dysfunction disorders. This article reviews the known genetic causes of surfactant dysfunction, with emphasis on the clinical presentations of each entity and the implications of the disorders for understanding normal lung cell biology and for other diseases of the lung.

Original languageEnglish (US)
Pages (from-to)16-23
Number of pages8
JournalClinical Pulmonary Medicine
Issue number1
StatePublished - Jan 14 2014


  • genetic basis of disease
  • interstitial lung disease
  • newborn
  • pulmonary alveolar proteinosis
  • respiratory distress syndrome

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine

Fingerprint Dive into the research topics of 'The expanded spectrum of genetic surfactant dysfunction disorders'. Together they form a unique fingerprint.

Cite this