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Titolo:
Heterozygosity for the hemochromatosis gene in liver diseases - prevalenceand effects on liver histology
Autore:
Hohler, T; Leininger, S; Kohler, HH; Schirmacher, P; Galle, PR;
Indirizzi:
Univ Mainz, Med Klin & Poliklin 1, Dept Internal Med 1, D-55101 Mainz, Germany Univ Mainz Mainz Germany D-55101 Internal Med 1, D-55101 Mainz, Germany Univ Mainz, Med Klin & Poliklin 1, Dept Pathol, D-55101 Mainz, Germany Univ Mainz Mainz Germany D-55101 1, Dept Pathol, D-55101 Mainz, Germany Univ Cologne, Dept Pathol, D-5000 Cologne, Germany Univ Cologne Cologne Germany D-5000 Dept Pathol, D-5000 Cologne, Germany
Titolo Testata:
LIVER
fascicolo: 6, volume: 20, anno: 2000,
pagine: 482 - 486
SICI:
0106-9543(200012)20:6<482:HFTHGI>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHRONIC HEPATITIS-C; B VIRUS-INFECTION; HEREDITARY HEMOCHROMATOSIS; NONALCOHOLIC STEATOHEPATITIS; IRON CONCENTRATION; HFE MUTATIONS; FIBROSIS; EXPRESSION; CIRRHOSIS; PREDICTOR;
Keywords:
hemochromatosis; HFE-gene; C282Y mutation; heterozygosity; hepatitis B; hepatitis C; autoimmune hepatitis; primary biliary cirrhosis; fibrosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Hohler, T Univ Mainz, Med Klin & Poliklin 1, Dept Internal Med 1, Langenbeckstr 1, D-55101 Mainz, Germany Univ Mainz Langenbeckstr 1 Mainz Germany D-55101 Mainz, Germany
Citazione:
T. Hohler et al., "Heterozygosity for the hemochromatosis gene in liver diseases - prevalenceand effects on liver histology", LIVER, 20(6), 2000, pp. 482-486

Abstract

Background/Aims. The effect of heterozygosity for the C282Y mutation in the HFE hemochromatosis gene on iron accumulation and disease progression in liver disease patients is unclear. Methods: We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. in addition, we assessed the influence of the mutation on liver histology in 34 C282Y heterozygous and 124 age-, sex- and disease-matched controls without the mutation using the modified HAI and Chevallier score. Results. The highest prevalence of the C282Y mutation was observed in patients with autoimmune hepatitis (17.2%, p<0.01) compared to 6.4% in healthy controls. Heterozygotes with hepatitis C and B virus infection showed higher ferritin and hepatic iron concentrations than patients without the mutation. However, we did not detect significant differences in necroinflammatory or fibrosis scores between carriers of the mutation and controls. Conclusions: There are marked differences in the prevalence of the C282Y mutation in patients with different liver diseases, with the highest prevalence rates in autoimmune hepatitis and PBC. However, the C282Y mutation alone only leads to a mild increase in iron accumulation in the majority of the patients, with the exception of H63D/C282Y compound heterozygotes. We found no evidence for more pronounced fibrosis in C282Y heterozygotes.

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Documento generato il 15/07/20 alle ore 07:42:01