Genetic mechanisms of surfactant deficiency

Lawrence M. Nogee

doi:10.1159/000078171

Genetic mechanisms of surfactant deficiency

Lawrence M. Nogee

School of Medicine

Research output: Contribution to journal › Article › peer-review

58 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	314-318
Number of pages	5
Journal	Biology of the Neonate
Volume	85
Issue number	4
DOIs	https://doi.org/10.1159/000078171
State	Published - 2004

Keywords

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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10.1159/000078171

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title = "Genetic mechanisms of surfactant deficiency",

abstract = "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.",

keywords = "Alveolar proteinosis, Infant, newborn, Interstitial lung disease, Mutation, Pulmonary surfactants, Respiratory distress syndrome",

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AB - 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.

KW - Alveolar proteinosis

KW - Infant, newborn

KW - Interstitial lung disease

KW - Mutation

KW - Pulmonary surfactants

KW - Respiratory distress syndrome

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Genetic mechanisms of surfactant deficiency

Abstract

Keywords

ASJC Scopus subject areas

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