High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic
K. Kratka
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorM. Dostalikova-Cimburova
Department of Cell and Molecular Biology and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Ruska 87, 100 00 Prague 10, Czech Republic
Search for more papers by this authorH. Michalikova
Department of Dermatovenerology, Third Faculty of Medicine, Charles University, Prague, Czech Republic
Search for more papers by this authorJ. Stransky
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorJ. Vranova
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorJ. Horak
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorK. Kratka
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorM. Dostalikova-Cimburova
Department of Cell and Molecular Biology and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Ruska 87, 100 00 Prague 10, Czech Republic
Search for more papers by this authorH. Michalikova
Department of Dermatovenerology, Third Faculty of Medicine, Charles University, Prague, Czech Republic
Search for more papers by this authorJ. Stransky
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorJ. Vranova
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorJ. Horak
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Search for more papers by this authorConflicts of interestNone declared.
K.K. and M.D.-C. contributed equally to this work.
Summary
Background Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT).
Objectives To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes.
Methods Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT.
Results The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0·001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT.
Conclusions There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent.
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