Congenital Deficiency of Pulmonary Surfactant Protein B

09/01/1994 - "Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement."
03/01/2005 - "Plain radiographic findings may be nonspecific or similar to classic surfactant deficiency disease for infants with surfactant protein B deficiency and acinar dysplasia. "
01/01/2001 - "Surfactant protein B deficiency: insights into surfactant function through clinical surfactant protein deficiency."
06/01/1999 - "Biochemical surfactant abnormalities of varying degrees have been described in obstructive lung diseases (asthma, bronchiolitis, chronic obstructive pulmonary disease, and following lung transplantation), infectious and suppurative lung diseases (cystic fibrosis, pneumonia, and human immunodeficiency virus), adult respiratory distress syndrome, pulmonary oedema, other diseases specific to infants (chronic lung disease of prematurity, and surfactant protein-B deficiency), interstitial lung diseases (sarcoidosis, idiopathic pulmonary fibrosis, and hypersensitivity pneumonitis), pulmonary alveolar proteinosis, following cardiopulmonary bypass, and in smokers. "
01/01/2017 - "Taken together, our results show that electroporation-mediated gene delivery of surfactant protein B-expressing plasmids improves survival, lung function, and lung histology in a mouse model of surfactant protein B deficiency and suggest that this may be a useful approach for the treatment of this otherwise deadly disease. "

12/01/2006 - "Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation."
10/01/2004 - "Inherited disorders of the surfactant system that affect neonatal respiratory adaptation at birth include hereditary surfactant protein B deficiency, mutations in surfactant protein C and the ABCA3 transporter."

05/01/2001 - "Surfactant protein B deficiency was confirmed by alveolar lavage and peripheral blood DNA analysis. "
04/01/1999 - "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."

01/01/2017 - "Taken together, our results show that electroporation-mediated gene delivery of surfactant protein B-expressing plasmids improves survival, lung function, and lung histology in a mouse model of surfactant protein B deficiency and suggest that this may be a useful approach for the treatment of this otherwise deadly disease. "
01/01/2017 - "Based on the potential that gene therapy offers to treat such intractable diseases, our objective was to test whether an electroporation-based gene delivery approach could restore surfactant protein B expression and improve survival in a compound knockout mouse model of surfactant protein B deficiency. "
01/01/2010 - "Seventy percent of the cases of hereditary surfactant protein-B deficiency are caused by homozygosity for the 121ins2 mutation in the surfactant protein-B gene. "

03/01/2005 - "Its pathogenesis remains unclear, although a surfactant protein B deficiency and changes in the granulocyte-macrophage colony stimulating factor (GM-CSF) receptor have been proposed as involved mechanisms. "

03/01/2005 - "Its pathogenesis remains unclear, although a surfactant protein B deficiency and changes in the granulocyte-macrophage colony stimulating factor (GM-CSF) receptor have been proposed as involved mechanisms. "

11/01/2002 - "Surfactant lavage demonstrates protein fibrils in a neonate with congenital surfactant protein b deficiency."

11/01/2016 - "Surfactant protein B deficiency is clinically progressive and fatal in the majority of the cases, similar to that of ATP binding cassette subfamily A member 3 (ABCA3) deficiency. "

02/01/1997 - "Lung transplantation for treatment of infants with surfactant protein B deficiency."
03/01/2012 - "The recipient was diagnosed with surfactant protein B deficiency, which is a fatal condition and lung transplantation is the only definitive therapy. "
01/01/2017 - "Surfactant Protein B Deficiency is a rare but lethal monogenetic, congenital lung disease of the neonate that is unresponsive to any treatment except lung transplantation. "
10/01/2006 - "Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure."
06/01/1999 - "Biochemical surfactant abnormalities of varying degrees have been described in obstructive lung diseases (asthma, bronchiolitis, chronic obstructive pulmonary disease, and following lung transplantation), infectious and suppurative lung diseases (cystic fibrosis, pneumonia, and human immunodeficiency virus), adult respiratory distress syndrome, pulmonary oedema, other diseases specific to infants (chronic lung disease of prematurity, and surfactant protein-B deficiency), interstitial lung diseases (sarcoidosis, idiopathic pulmonary fibrosis, and hypersensitivity pneumonitis), pulmonary alveolar proteinosis, following cardiopulmonary bypass, and in smokers. "

09/01/2002 - "A 3-year retrospective study of 173 neonates treated with extracorporeal membrane oxygenation in the United Kingdom identified 9 cases of irreversible lung dysplasia, including alveolar capillary dysplasia (n = 5), surfactant protein B deficiency (n = 1), pulmonary hypoplasia (n = 1), pulmonary lymphangiectasis (n = 1), and combined lymphangiectasis and hypoplasia (n = 1)."
04/01/2023 - "Six patients, 2 with pulmonary veno-occlusive disease (15-month-old male and 8-month-old male), 1 with ABCA3 mutation (2-month-old female), 1 with surfactant protein B deficiency (2-month-old female), 1 with pulmonary arterial hypertension in the setting of D-transposition of the great arteries after repair as a neonate (13-year-old male), and 1 with cystic fibrosis and end-stage lung disease, were supported for a median of 56.3 days on extracorporeal membrane oxygenation while awaiting transplantation. "

01/01/2017 - "Infants underwent transplantation more frequently for surfactant protein-B deficiency, whereas children underwent transplantation more frequently for SFTPC mutations. "
04/01/2023 - "Six patients, 2 with pulmonary veno-occlusive disease (15-month-old male and 8-month-old male), 1 with ABCA3 mutation (2-month-old female), 1 with surfactant protein B deficiency (2-month-old female), 1 with pulmonary arterial hypertension in the setting of D-transposition of the great arteries after repair as a neonate (13-year-old male), and 1 with cystic fibrosis and end-stage lung disease, were supported for a median of 56.3 days on extracorporeal membrane oxygenation while awaiting transplantation. "

03/01/2012 - "The recipient was diagnosed with surfactant protein B deficiency, which is a fatal condition and lung transplantation is the only definitive therapy. "

06/01/1999 - "Biochemical surfactant abnormalities of varying degrees have been described in obstructive lung diseases (asthma, bronchiolitis, chronic obstructive pulmonary disease, and following lung transplantation), infectious and suppurative lung diseases (cystic fibrosis, pneumonia, and human immunodeficiency virus), adult respiratory distress syndrome, pulmonary oedema, other diseases specific to infants (chronic lung disease of prematurity, and surfactant protein-B deficiency), interstitial lung diseases (sarcoidosis, idiopathic pulmonary fibrosis, and hypersensitivity pneumonitis), pulmonary alveolar proteinosis, following cardiopulmonary bypass, and in smokers. "