Fatal familial surfactant protein B deficiency.
نویسندگان
چکیده
منابع مشابه
Fatal familial surfactant protein B deficiency.
Fatal familial surfactant protein B deficiency EDrroR,-In 1993 a sibship of three infants who died of hyaline membrane disease had had an absence of surfactant protein B (SP-B) and its mRNA in lung tissue.' The gene coding for SP-B has been located and a frameshift mutation in this gene has been identified in the reported sibship and in two other families .2 A further six cases of SP-B deficien...
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Inability to produce surfactant protein B (SP-B) causes fatal neonatal respiratory disease. A frame-shift mutation (121ins2) is the predominant but not exclusive cause of disease. To determine the range of mechanisms responsible for SP-B deficiency, both alleles from 32 affected infants were characterized. Sixteen infants were homozygous for the 121ins2 mutation, 10 infants were heterozygous fo...
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Surfactant protein B is essential for normal pulmonary surfactant activity and lamellar body genesis in type 2 cells. However, the role of SP-B in lamellar body genesis is poorly understood. We developed an adenovirus vector expressing antisense SP-B as an alternative in vitro model of SP-B deficiency to begin to explore the role of SP-B in lamellar body genesis. RT-PCR analysis revealed that a...
متن کاملPulmonary surfactant metabolism in infants lacking surfactant protein B.
Infants with inherited deficiency of pulmonary surfactant protein (SP) B develop respiratory failure at birth and die without lung transplantation. We examined aspects of surfactant metabolism in lung tissue and lavage fluid acquired at transplantation or postmortem from ten infants born at term with inherited deficiency of SP-B; comparison groups were infants with other forms of chronic lung d...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood - Fetal and Neonatal Edition
سال: 1995
ISSN: 1359-2998,1468-2052
DOI: 10.1136/fn.73.1.f53