title: Surfactant protein B deficiency: clinical, histological and molecular evaluation.
abstract: Congenital alveolar proteinosis due to surfactant protein B deficiency is an inherited disease which results in severe respiratory failure in term infants soon after birth. The pathophysiologic basis of this disease is now known to be an inability to synthesise adequate quantities of normally functioning surfactant protein B. We report a male infant with fatal respiratory failure of neonatal onset, and histopathological features typical of those seen in congenital alveolar proteinosis. Molecular analysis of genomic DNA revealed two mutations, the 'common' 121ins2 mutation in exon 4, and a novel 2bp frameshift mutation in exon 5. We believe this is the first Australian case of surfactant protein B deficiency confirmed by molecular analysis.
authors.affiliation: Department of Intensive Care, Sydney Children's Hospital, Randwick, Australia. GWilliams@unsw.edu.au
authors.forename: G D
authors.initials: GD
authors.lastname: Williams
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: J
authors.initials: J
authors.lastname: Stack
authors.forename: P
authors.initials: P
authors.lastname: Symons
authors.forename: S E
authors.initials: SE
authors.lastname: Wert
authors.forename: M J
authors.initials: MJ
authors.lastname: Murrell
authors.forename: L M
authors.initials: LM
authors.lastname: Nogee
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001707:Biopsy, Needle; D004247:DNA / Q000302:isolation & purification*; D017809:Fatal Outcome; D016368:Frameshift Mutation; D020180:Heteroduplex Analysis; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011510:Proteolipids / Q000096:biosynthesis / Q000235:genetics*; D011649:Pulmonary Alveolar Proteinosis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D011663:Pulmonary Surfactants / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics*
chemical_list: D011510:Proteolipids; D011663:Pulmonary Surfactants; D004247:DNA