Surfactant protein B deficiency: Clinical, histological and molecular evaluation

Williams, Gary; Christodoulou, John; Stack, Jacqueline A.; Symons, P; Wert, Susan E.; Murrell, Melanie; Nogee, Lawrence M.

doi:10.1046/j.1440-1754.1999.00307.x

Cited by 33 publications

(14 citation statements)

References 26 publications

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“…Sequence changes (mutations, polymorphisms, and other variants) are indicated upon their location on the gene according to the recommendations for a nomenclature for human gene mutation, [Antonarakis and the Nomenclature Working Group, 1998], 1970insdel(CA) n indicating the intron-4 compound insertiondeletion polymorphism. References between parentheses: a, Lin et al [2000]; b, Nogee et al [2000]; c, Tredano et al [1999]; d, this manuscript; e, Lin et al [1998]; f, Nogee et al [1994]; g, Somaschini et al [2000]; h, Tredano et al [1998]; i, Floros et al [1995]; j, Williams et al [1999]; k, Klein et al [1998]; l, Dunbar et al [2000]; m, Ballard et al [1995]; n, Weaver and Conkright [2001]; o, Pilot-Matias et al [1989]. the samples were lipid extracted, the lower phase was Folch washed, and the phospholipid content was assessed from inorganic phosphate of the lipid extracts.…”

Section: Surfactant Protein Characterizationmentioning

confidence: 99%

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB

Tredano

Griese

Blic

et al. 2003

American J of Med Genetics Pt A

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We have analyzed surfactant protein B (SP-B) and its encoding gene (SFTPB, MIM 178640) in 40 unrelated pediatric patients with unexplained respiratory distress (URD). There was high consanguinity (eight kindreds) and an underlying autosomal recessive trait could be inferred in most cases, with overall high sex ratio (32/17) suggesting proband's gender to impact on penetrance. The clinical/biological presentations fitted into three major nosologic frameworks. I: SP-B deficiency (nine probands), complete or incomplete, with homozygous/compoundly heterozygous mutations identified (six probands), including one from the population isolate of Réunion Island (496delG). In addition, there was a consanguineous kindred in which incomplete deficiency was unambiguously unlinked to SFTPB. II: pulmonary alveolar proteinosis (PAP, 19 probands), with typical storage of PAS-positive material within the alveoli with foamy macrophages and variable interstitial reaction, which was diagnosed in most patients from Réunion Island. In contrast to previously published findings, mutation and/or segregation analyses excluded SFTPB as a disease locus, although slight metabolic derangement related to SP-B and/or mild SFTPB changes could somehow contribute to disease. III: URD without evidence for SP-B deficiency or PAP (12 probands), equally unlinked to SFTPB, although a single patient had a possibly causal, maternally-derived, heterozygous genetic change (G4521A). The population frequency of five known and four novel SNPs was studied, providing as many potential markers for pulmonary disease related to SFTPB. Overall, URD was found to be heterogeneous, both phenotypically and genetically, even in population isolates where a founder effect might have been expected. When disease loci are identified, patient genotyping will be crucial as a diagnostic aid, for devising proper treatment, and as a basis for genetic counseling.

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Section: Surfactant Protein Characterizationmentioning

confidence: 99%

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB

Tredano

Griese

Blic

et al. 2003

American J of Med Genetics Pt A

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“…First, it reduces surface tension at the air-liquid interface of the lung. This function requires an appropriate mix of surfactant lipids and the hydrophobic proteins, SP-B and SP-C [9]; SP-B deficiencies have been associated with infant mortality due to respiratory distress syndrome [10,11]. Second, surfactant also plays a role in host defense against infection and inflammation.…”

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confidence: 99%

Host Defense Functions of Pulmonary Surfactant

Wright¹

2004

Neonatology

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Surfactant is a complex of lipids and proteins that reduces surface tension at the air/liquid interface of the lung and regulates immune cell function. Surfactant immune function is primarily attributed to two proteins: SP-A and SP-D. SP-A and SP-D are members of a protein family known as ‘collectins’, which are distinguished by their N-terminal collagen-like region and their C-terminal lectin domain. The lectin domain binds preferentially to sugars on the surface of pathogens and thereby opsonizes them for uptake by phagocytes. The collectins also modulate the functions of cells of the adaptive immune network including dendritic cells and T lymphocytes. In addition, recent studies show that bacterial products degrade surfactant. In summary, surfactant plays an important role in lung host defense. Surfactant degradation or inactivation may contribute to enhanced susceptibility to lung inflammation and infection.

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“…Thus, surfactant extracts containing only SP-B reached significantly lower surface tension in contrast to SP-C containing surfactant extracts. Studies on SP-B gene knockout mice, as well as infants with SP-B deficiency, have demonstrated an incompatibility with life as a result of dysfunctional surfactant action [30,31]. In addition, SP-B has been shown to demonstrate antimicrobial activity, suggesting that pulmonary host defence may involve an interaction between SP-A, -D and -B.…”

Section: Biochemical Background Of Surfactant Analoguesmentioning

confidence: 99%

The Role of Surfactant in Respiratory Distress Syndrome

Cheng-Hwa¹

2012

TORMJ

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The key feature of respiratory distress syndrome (RDS) is the insufficient production of surfactant in the lungs of preterm infants. As a result, researchers have looked into the possibility of surfactant replacement therapy as a means of preventing and treating RDS. We sought to identify the role of surfactant in the prevention and management of RDS, comparing the various types, doses, and modes of administration, and the recent development. A PubMed search was carried out up to March 2012 using phrases: surfactant, respiratory distress syndrome, protein-containing surfactant, protein-free surfactant, natural surfactant, animal-derived surfactant, synthetic surfactant, lucinactant, surfaxin, surfactant protein-B, surfactant protein-C.Natural, or animal-derived, surfactant is currently the surfactant of choice in comparison to protein-free synthetic surfactant. However, it is hoped that the development of protein-containing synthetic surfactant, such as lucinactant, will rival the efficacy of natural surfactants, but without the risks of their possible side effects. Administration techniques have also been developed with nasal continuous positive airway pressure (nCPAP) and selective surfactant administration now recommended; multiple surfactant doses have also reported better outcomes. An aerosolised form of surfactant is being trialled in the hope that surfactant can be administered in a non-invasive way. Overall, the advancement, concerning the structure of surfactant and its mode of administration, offers an encouraging future in the management of RDS.

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Surfactant protein B deficiency: Clinical, histological and molecular evaluation

Cited by 33 publications

References 26 publications

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB

Host Defense Functions of Pulmonary Surfactant

The Role of Surfactant in Respiratory Distress Syndrome

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