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High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.
Br J Dermatol. 2008 Sep; 159(3):585-90.BJ

Abstract

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.

Authors+Show Affiliations

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. karolinakratka@seznam.czNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18565178

Citation

Kratka, K, et al. "High Prevalence of HFE Gene Mutations in Patients With Porphyria Cutanea Tarda in the Czech Republic." The British Journal of Dermatology, vol. 159, no. 3, 2008, pp. 585-90.
Kratka K, Dostalikova-Cimburova M, Michalikova H, et al. High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. Br J Dermatol. 2008;159(3):585-90.
Kratka, K., Dostalikova-Cimburova, M., Michalikova, H., Stransky, J., Vranova, J., & Horak, J. (2008). High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. The British Journal of Dermatology, 159(3), 585-90. https://doi.org/10.1111/j.1365-2133.2008.08693.x
Kratka K, et al. High Prevalence of HFE Gene Mutations in Patients With Porphyria Cutanea Tarda in the Czech Republic. Br J Dermatol. 2008;159(3):585-90. PubMed PMID: 18565178.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. AU - Kratka,K, AU - Dostalikova-Cimburova,M, AU - Michalikova,H, AU - Stransky,J, AU - Vranova,J, AU - Horak,J, Y1 - 2008/06/28/ PY - 2008/6/21/pubmed PY - 2008/12/23/medline PY - 2008/6/21/entrez SP - 585 EP - 90 JF - The British journal of dermatology JO - Br J Dermatol VL - 159 IS - 3 N2 - 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. SN - 1365-2133 UR - https://www.unboundmedicine.com/medline/citation/18565178/High_prevalence_of_HFE_gene_mutations_in_patients_with_porphyria_cutanea_tarda_in_the_Czech_Republic_ L2 - https://doi.org/10.1111/j.1365-2133.2008.08693.x DB - PRIME DP - Unbound Medicine ER -