Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients

: Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were...

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Bibliographic Details
Published in:Liver international 2004-02, Vol.24 (1), p.16-20
Main Authors: Nagy, Zsuzsanna, Kószó, Ferenc, Pár, Alajos, Emri, Gabriella, Horkay, Irén, Horányi, Margit, Karádi, Oszkár, Rumi Jr, György, Morvay, Márta, Varga, Viktória, Dobozy, Attila, Mózsik, Gyula
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Female
Hemochromatosis - complications
Hemochromatosis - genetics
hemochromatosis gene
Hemochromatosis Protein
Hepatitis C - complications
hepatitis C virus
Histocompatibility Antigens Class I - genetics
Humans
Hungary
Male
Membrane Proteins - genetics
Middle Aged
Mutation
porphyria cutanea tarda
Porphyria Cutanea Tarda - complications
Porphyria Cutanea Tarda - etiology
Porphyria Cutanea Tarda - physiopathology
Risk Factors
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Summary:: Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors. Methods: The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status. Results: The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P
ISSN:1478-3223
1478-3231
DOI:10.1111/j.1478-3231.2004.00884.x