Pathophysiology and treatment of surfactant protein-B deficiency

Aaron Hamvas*, Lawrence M. Nogee, Daphne E. DeMello, Sessions Cole

*Corresponding author for this work

Research output: Contribution to journalArticle

48 Scopus citations

Abstract

Surfactant protein B (SP-B) deficiency is an inherited disease of full-term newborn infants which leads to lethal respiratory failure within the first year of life. Genetic analysis of affected infants has permitted identification of a mutation in the SP-B gene found in several unrelated kindreds which disrupts pulmonary surfactant composition and function. Lung transplantation has resulted in reconstitution of pulmonary surfactant function and long-term survival. SP-B deficiency represents the first opportunity to link physiologic characteristics of respiratory failure in infancy with specific molecular and cellular defects. This linkage will facilitate development of novel strategies for the treatment of neonatal respiratory diseases.

Original languageEnglish (US)
Pages (from-to)18-31
Number of pages14
JournalNeonatology
Volume67
DOIs
StatePublished - 1995

Keywords

  • Genetic disorder
  • Infant
  • Lung transplant
  • Proteinosis
  • Respiratory distress
  • Surfactant apoprotein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Biology

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