Surfactant protein B deficiency: insights into surfactant function through clinical surfactant protein deficiency.
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.
Thompson
M W
MW
Department of Pediatrics, Walter Reed Army Medical Center/National Naval Medical Center, Washington, DC, USA. mthompson@usuhsb.usuhs.mil
D000328:Adult; D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000235:genetics* / Q000503:physiopathology; D051379:Mice; D018345:Mice, Knockout; D011510:Proteolipids / Q000235:genetics* / Q000502:physiology; D011663:Pulmonary Surfactants / Q000172:deficiency* / Q000235:genetics* / Q000502:physiology; D012131:Respiratory Insufficiency / Q000235:genetics / Q000503:physiopathology
D011510:Proteolipids; D011663:Pulmonary Surfactants