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Titolo:
Pulmonary alveolar proteinosis: A review
Autore:
deMello, DE; Lin, ZW;
Indirizzi:
St Louis Univ, Cardinal Glennon Childrens Hosp, Hlth Sci Ctr, Dept Pathol,St Louis, MO 63104 USA St Louis Univ St Louis MO USA 63104 r, Dept Pathol,St Louis, MO 63104 USA Penn State Univ, Coll Med, Dept Cellular & Mol Physiol, Hershey, PA USA Penn State Univ Hershey PA USA t Cellular & Mol Physiol, Hershey, PA USA
Titolo Testata:
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
fascicolo: 5, volume: 20, anno: 2001,
pagine: 413 - 432
SICI:
1522-7952(200109)20:5<413:PAPAR>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
COLONY-STIMULATING FACTOR; RECEPTOR-DEFICIENT MICE; COMMON BETA-CHAIN; SP-B DEFICIENCY; SURFACTANT-ASSOCIATED PROTEINS; RESPIRATORY-DISTRESS SYNDROME; MESSENGER-RNA; LUNG-FUNCTION; SP-A; EXPRESSION;
Keywords:
alveolar; congenital; molecular; pathology; phenotype; proteinosis;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
51
Recensione:
Indirizzi per estratti:
Indirizzo: deMello, DE St Louis Univ, Cardinal Glennon Childrens Hosp, Hlth Sci Ctr, Dept Pathol,1465 S Grand Blvd, St Louis, MO 63104 USA St Louis Univ 1465 S Grand Blvd St Louis MO USA 63104 3104 USA
Citazione:
D.E. deMello e Z.W. Lin, "Pulmonary alveolar proteinosis: A review", PEDIAT PATH, 20(5), 2001, pp. 413-432

Abstract

Pulmonary alveolar proteinosis (PAP) is a disorder that rapidly leads to respiratory failure, because the alveolar spaces fill with a lipid-rich, proteinaceous material that impedes gas exchange. The pathogenesis of this life-threatening process remained an enigma for decades. Recent analysis of the lung pathology and molecular genetics of affected families has provided amolecular basis for some cases of PAP-deficiency of surfactant protein SP-B. This lack results from mutations in the gene for SP-B. The common mutation, 121ins2, is present in about two-thirds of the patients with SP-B deficiency. Additional insights into the mechanism for this lipoproteinaceous accumulation within alveoli were contributed by serendipity in a granulocyte-macrophage-colony stimulating factor (GM-CSF) knock-out mouse model developed to study basal hematopoiesis. In this model, hematopoiesis was unaffected, but the animals developed pulmonary alveolar proteinosis. Subsequently, mutations in the genes for GM-CSF or its receptor were identified as the cause for pulmonary alveolar proteinosis in some patients. In our review, we discuss the known clinical, pathologic, and molecular genetic aspects of pediatric PAP and consider avenues for future research.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/20 alle ore 08:19:50