Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism
Autore:
Tredano, M; de Blic, J; Griese, M; Fournet, JC; Elion, J; Bahuau, M;
Indirizzi:
Hop Enfants Armand Trousseau, Serv Biochim & Biol Mol, F-75571 Paris 12, France Hop Enfants Armand Trousseau Paris France 12 l, F-75571 Paris 12, France Hop Necker Enfants Malad, Serv Pneumol & Allergol Pediat, Paris, France Hop Necker Enfants Malad Paris France & Allergol Pediat, Paris, France Hop Necker Enfants Malad, Serv Anat & Cytol Pathol, Paris, France Hop Necker Enfants Malad Paris France nat & Cytol Pathol, Paris, France Univ Munich, Dr von Haunerschen Kinderspital, Kinderklin & Kinderpoliklin,D-80337 Munich, Germany Univ Munich Munich Germany D-80337 inderpoliklin,D-80337 Munich, Germany Hop Robert Debre, Serv Biochim Genet, F-75019 Paris, France Hop Robert Debre Paris France F-75019 ochim Genet, F-75019 Paris, France Hop Robert Debre, INSERM, U458, F-75019 Paris, France Hop Robert Debre Paris France F-75019 NSERM, U458, F-75019 Paris, France
Titolo Testata:
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
fascicolo: 2, volume: 39, anno: 2001,
pagine: 90 - 108
SICI:
1434-6621(200102)39:2<90:CBAGHO>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN-B DEFICIENCY; COLONY-STIMULATING FACTOR; CONGENITAL ALVEOLAR PROTEINOSIS; RESPIRATORY-DISTRESS SYNDROME; SP-A GENE; COMMON BETA-CHAIN; LUNG SURFACTANT; IN-VIVO; SP-C; PRENATAL-DIAGNOSIS;
Keywords:
surfactant, pulmonary; pulmonary alveolar proteinosis; SP-B protein deficiency; hyaline membrane disease; respiratory distress;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
87
Recensione:
Indirizzi per estratti:
Indirizzo: Tredano, M Hop Enfants Armand Trousseau, Serv Biochim & Biol Mol, 26 Ave Docteur Arnold Netter, F-75571 Paris 12, France Hop Enfants Armand Trousseau26 Ave Docteur Arnold Netter Paris France 12
Citazione:
M. Tredano et al., "Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism", CLIN CH L M, 39(2), 2001, pp. 90-108

Abstract

Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer (consisting mainly of phospholipids), and ofan aqueous subphase. From discrete surfactant sub-fractions one can isolate strongly hydrophobic surf acta nt proteins B (SP-B) and C (SP-C) as well as collectins SP-A and SP-D, which were shown to have specific structural, metabolic, or immune properties. Inborn or acquired abnormalities of the surfactant, qualitative or quantitative in nature, account for a number of human diseases. Beside hyaline membrane disease of the preterm neonate, a cluster of hereditary or acquired lung diseases has been characterized by periodic acid-Schiff-positive material filling the alveoli. From this heterogeneous nosologic group, at least two discrete entities presently emerge. The first is the SP-B deficiency, in which an essentially proteinaceous material is stored within the alveoli, and which represents an autosomal recessiveMendelian entity linked to the SFTPB gene (MIM 1786640). The disease usually generally entails neonatal respiratory distress with rapid fatal outcome, although partial or transient deficiencies have also been observed. The second is alveolar proteinosis, characterized by the storage of a mixed protein and lipid material, which constitutes a relatively heterogeneous clinical and biological syndrome, especially with regard to age at onset (from the neonate through to adulthood) as well as the severity of associated signs. Murine models, with a targeted mutation of the gene encoding granulocyte macrophage colony-stimulating factor (GM-CSF) (Csfgm) or the beta subunit of its receptor (II3rb1) support the hypothesis of an abnormality of surfactant turnover in which the alveolar macrophage is a key player. Apart from SP-B deficiency, in which a near-consensus diagnostic chart can be designed,the ascertainment of other abnormalities of surfactant metabolism is not straightforward. The disentanglement of this disease cluster is however essential to propose specific therapeutic procedures: repeated broncho-alveolarravages, GM-CSF replacement, bone marrow grafting or lung transplantation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 20:35:17