Surfactant Protein B Deficiency:Insights into Surfactant Function through Clinical Surfactant Protein Deficiency
作者:
Mark Thompson,
期刊:
The American Journal of the Medical Sciences
(OVID Available online 2001)
卷期:
Volume 321,
issue 1
页码: 26-32
ISSN:0002-9629
年代: 2001
出版商: OVID
关键词: Respiratory distress syndrome;High-frequency ventilation;Lung transplantation;Transgenic mice.
数据来源: OVID
摘要:
Surfactant protein B (SP-B) deficiency is a disorder of surfactant function with complete or transient absence of SP-B in term neonates. SP-B, 1 of 4 described surfactant-associated proteins, plays a key role in surfactant metabolism, particularly in intracellular packaging of surfactant components, formation of tubular myelin, and the presentation of the surfactant phospholipid monolayer to the air-fluid interface within the alveolus. Neonates with clinical SP-B deficiency best demonstrate the key role of SP-B in surfactant function. “Classic” deficiency results in severe respiratory failure in term infants and death unless lung transplantation is performed. Because the initial description of complete deficiency secondary to a homozygous frameshift mutation in codon 121 of the SP-B cDNA, partial deficiencies with differing genetic backgrounds and less severe clinical courses have been reported. These partial deficiency states may provide a clearer picture of genotype/phenotype relationships in SP-B function and surfactant metabolism. SP-B deficiency or dysfunction may be more common than once thought and may play a significant role in neonatal lung disease
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