PubMed · 2004 · 13 citations · 7 references
Life SciencesGeneticsMolecular GeneticsHepatologyHuman GeneticsMedical GeneticsGenetic DisordersHereditary HemochromatosisLiver DiseaseRare Disease GeneticsViral HepatitisGene Mutation DetectionGenetic Liver DiseaseHemochromatosis AssociationHemochromatosis PathophysiologyMetabolic PorphyriasMutationPorphyria Cutanea TardaPorphyria Pathobiology
Porphyria cutanea tarda (PCT) is associated with estrogen, certain medications, alcohol abuse, hepatitis viruses, and iron overload. Numerous studies have demonstrated an increased incidence of hepatitis C in patients with PCT; therefore, hepatitis screening should be routinely performed on these patients. On the other hand, although studies have long suspected hereditary hemochromatosis (HH) to be an underlying condition of PCT, many physicians have a low index of suspicion. Also, diagnosis of HH has been difficult until recently, when the gene mutation was identified. We present a case of a patient with PCT, hepatitis C, and alcoholism who was homozygous for the HH gene mutation.
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A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
John N. Feder, Andreas Gnirke, Zenta Tsuchihashi et al. · Nature Genetics · 1996 · 3.7K citations
Hepatitis C Virus and Porphyria Cutanea Tarda: Evidence of A Strong Association
Silvia Fargion, Alberto Piperno, Maria Domenica Cappellini et al. · Hepatology · 1992 · 294 citations · Full text
Medicine, Microbiology, Pathology +16
Is hepatitis C virus infection a trigger of porphyria cutanea tarda?
Carmen Herrero, Asunción Vicente, J.M. Mascaró et al. · The Lancet · 1993 · 192 citations
Katherine Stuart, Frances Busfield, Elizabeth C. Jazwinska et al. · Journal of Hepatology · 1998 · 128 citations