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Titolo:
Iron overload in the era of molecular biology.
Autore:
Deugnier, Y; Moirand, R; Brissot, P; David, V;
Indirizzi:
CHU Pontchaillou, Clin Malad Foie, F-35033 Rennes, France CHU Pontchaillou Rennes France F-35033 alad Foie, F-35033 Rennes, France CHU Pontchaillou, INSERM, U49, F-35033 Rennes, France CHU Pontchaillou Rennes France F-35033 SERM, U49, F-35033 Rennes, France CHU Pontchaillou, Genet Mol Lab, F-35033 Rennes, France CHU Pontchaillou Rennes France F-35033 t Mol Lab, F-35033 Rennes, France CHU Pontchaillou, CNRS, UPR 41, F-35033 Rennes, France CHU Pontchaillou Rennes France F-35033 S, UPR 41, F-35033 Rennes, France
Titolo Testata:
PATHOLOGIE BIOLOGIE
fascicolo: 9, volume: 47, anno: 1999,
pagine: 938 - 944
SICI:
0369-8114(199911)47:9<938:IOITEO>2.0.ZU;2-W
Fonte:
ISI
Lingua:
FRE
Soggetto:
CHRONIC HEPATITIS-C; GENETIC HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS; LIVER IRON; DIAGNOSIS; MUTATION; STORES;
Keywords:
inherited hemochromatosis; HFE gene; C282Y mutation; H63D mutation; cirrhosis; insulin resistance;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Deugnier, Y CHU Pontchaillou, Clin Malad Foie, Rue Henri Le Guillou, F-35033 Rennes, France CHU Pontchaillou Rue Henri Le Guillou Rennes France F-35033 e
Citazione:
Y. Deugnier et al., "Iron overload in the era of molecular biology.", PATH BIOL, 47(9), 1999, pp. 938-944

Abstract

Identification of the HFE gene and its C282Y and H63D mutations has improved the classification of iron overload disorders. Inherited hemochromatosisis due mainly or perhaps only, to C282Y homozygosity, whereas nonhemochromatosis forms of iron overload are due to other HFE mutations and are usually responsible for mild overload precipitated by another factor such as cirrhosis or insulin-resistance. In practice, the diagnosis of inherited hemochromatosis rests on demonstration of homozygosity for the C282Y mutation; inthis setting, the role of liver biopsy is to evaluate the prognosis by looking for fibrosis. In patients who are not homozygous for the C282Y mutation but have severe iron overload, causes other than hemochromatosis should be looked for before the extremely remote possibility of nonC282Y-related hemochromatosis is considered; here, liver biopsy remains of considerable diagnostic usefulness.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 10:23:08