Source:http://linkedlifedata.com/resource/pubmed/id/11855561
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2002-2-21
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pubmed:abstractText |
The coexistence of factors considered to contribute to development of porphyria cutanea tarda was studied in 39 consecutive patients. Highly prevalent factors were alcohol intake in 79%, smoking in 86%, hepatitis C virus infection in 74%, estrogen use in 73% of 11 females, and at least one mutation in the HFE (hereditary hemochromatosis) gene in 65%. The C282Y mutation was found in 29%, H63D in 47%, and S65C in 0%. HFE genotypes included C282Y/C282Y in 9%, H63D/H63D in 9%, C282Y/H63D in 12%, C282Y/wild type in 9%, and H63D/wild type in 26%. Less prevalent were HIV infection in 15% (or 25% of those tested, N = 24) and erythrocyte uroporphyrinogen decarboxylase deficiency, which distinguishes familial (type 2) from "sporadic" (type 1) porphyria cutanea tarda, in 19%. Multiple contributing factors coexisted in both types 1 and 2, with 92% of all patients having three or more factors. These observations indicate that this porphyria is multifactorial in the individual patient, and therefore is seldom attributable to a single identifiable cause. Profiling for all potentially contributing factors is important for individualizing management.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0163-2116
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
419-26
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:11855561-Alcohol Drinking,
pubmed-meshheading:11855561-Estrogens,
pubmed-meshheading:11855561-Female,
pubmed-meshheading:11855561-HIV Infections,
pubmed-meshheading:11855561-Hemochromatosis,
pubmed-meshheading:11855561-Hepatitis C,
pubmed-meshheading:11855561-Humans,
pubmed-meshheading:11855561-Mutation,
pubmed-meshheading:11855561-Porphyria Cutanea Tarda,
pubmed-meshheading:11855561-Risk Factors,
pubmed-meshheading:11855561-Smoking,
pubmed-meshheading:11855561-Uroporphyrinogen Decarboxylase
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pubmed:year |
2002
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pubmed:articleTitle |
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
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pubmed:affiliation |
Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston 77555-1109, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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