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TNF alpha polymorphisms, HFE gene mutations and acquired factors in Italian patients with porphyria cutanea tarda

✍ Scribed by Silvia Rossana Fargion; Paola Dongiovanni; Luca Valenti; AnnaLudovica Fracanzani; Maurizio Sampietro; MariaDomenica Cappellini; Gemino Fiorelli

Book ID
118565486
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
212 KB
Volume
36
Category
Article
ISSN
0168-8278

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Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A

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et al. 6 who also found no association between the C282Y mutation and SPCT. The H63D mutation was observed in 10 of the 48 PCT patients corresponding to 20.8%. Of the 10 individuals diagnosed, 4 belonged to the familial form of PCT and 6 to the sporadic form. The mutations detected were all heteroz