Tags

Type your tag names separated by a space and hit enter

The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection.
J Eur Acad Dermatol Venereol. 2006 Nov; 20(10):1201-6.JE

Abstract

OBJECTIVES

To investigate the role of C282Y and H63D mutations, and hepatitis C virus (HCV) infection in the pathogenesis of porphyria cutanea tarda (PCT).

DESIGN

Prospective case-control study.

SETTING

A large clinical and research institute for the study and treatment of cutaneous diseases in Barcelona, Spain.

PATIENTS

Ninety-nine consecutive patients with PCT and one hundred and twenty-six control patients (76 healthy subjects and 50 patients chronically infected with HCV), were recruited.

MAIN OUTCOME MEASURES

The frequency of the C282Y and H63D mutations in patients with PCT vs. controls and the relationship of these mutations with HCV infection, and iron status, as judged by serum iron, liver iron and ferritin levels.

RESULTS

C282Y mutation was significantly increased in PCT patients. This mutation was more frequent among non-HCV-infected patients. Increased ferritin levels and hepatic iron overload were also observed in PCT patients with heterozygous C282Y state. H63D mutation was only significantly increased among PCT patients with chronic hepatitis C infection. No significant iron overload was observed in patients with H63D mutation.

CONCLUSIONS

This study confirms the high frequency of C282Y mutation in patients with PCT and its relationship with iron overload. The C282Y mutation has a relevant role in Spanish patients with PCT not associated with HCV chronic infection. On the other hand, the prevalence of the H63D mutation seems not to be increased in patients with PCT. The possibility of an association between HCV infection and H63D mutation in inducing PCT can be hypothesized.

Authors+Show Affiliations

Department of Dermatology, Hospital Clinic, University of Barcelona, Spain. 30632ata@comb.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17062032

Citation

Toll, A, et al. "The Prevalence of HFE C282Y Gene Mutation Is Increased in Spanish Patients With Porphyria Cutanea Tarda Without Hepatitis C Virus Infection." Journal of the European Academy of Dermatology and Venereology : JEADV, vol. 20, no. 10, 2006, pp. 1201-6.
Toll A, Celis R, Ozalla MD, et al. The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. J Eur Acad Dermatol Venereol. 2006;20(10):1201-6.
Toll, A., Celis, R., Ozalla, M. D., Bruguera, M., Herrero, C., & Ercilla, M. G. (2006). The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. Journal of the European Academy of Dermatology and Venereology : JEADV, 20(10), 1201-6.
Toll A, et al. The Prevalence of HFE C282Y Gene Mutation Is Increased in Spanish Patients With Porphyria Cutanea Tarda Without Hepatitis C Virus Infection. J Eur Acad Dermatol Venereol. 2006;20(10):1201-6. PubMed PMID: 17062032.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. AU - Toll,A, AU - Celis,R, AU - Ozalla,M D, AU - Bruguera,M, AU - Herrero,C, AU - Ercilla,M G, PY - 2006/10/26/pubmed PY - 2007/1/26/medline PY - 2006/10/26/entrez SP - 1201 EP - 6 JF - Journal of the European Academy of Dermatology and Venereology : JEADV JO - J Eur Acad Dermatol Venereol VL - 20 IS - 10 N2 - OBJECTIVES: To investigate the role of C282Y and H63D mutations, and hepatitis C virus (HCV) infection in the pathogenesis of porphyria cutanea tarda (PCT). DESIGN: Prospective case-control study. SETTING: A large clinical and research institute for the study and treatment of cutaneous diseases in Barcelona, Spain. PATIENTS: Ninety-nine consecutive patients with PCT and one hundred and twenty-six control patients (76 healthy subjects and 50 patients chronically infected with HCV), were recruited. MAIN OUTCOME MEASURES: The frequency of the C282Y and H63D mutations in patients with PCT vs. controls and the relationship of these mutations with HCV infection, and iron status, as judged by serum iron, liver iron and ferritin levels. RESULTS: C282Y mutation was significantly increased in PCT patients. This mutation was more frequent among non-HCV-infected patients. Increased ferritin levels and hepatic iron overload were also observed in PCT patients with heterozygous C282Y state. H63D mutation was only significantly increased among PCT patients with chronic hepatitis C infection. No significant iron overload was observed in patients with H63D mutation. CONCLUSIONS: This study confirms the high frequency of C282Y mutation in patients with PCT and its relationship with iron overload. The C282Y mutation has a relevant role in Spanish patients with PCT not associated with HCV chronic infection. On the other hand, the prevalence of the H63D mutation seems not to be increased in patients with PCT. The possibility of an association between HCV infection and H63D mutation in inducing PCT can be hypothesized. SN - 0926-9959 UR - https://www.unboundmedicine.com/medline/citation/17062032/The_prevalence_of_HFE_C282Y_gene_mutation_is_increased_in_Spanish_patients_with_porphyria_cutanea_tarda_without_hepatitis_C_virus_infection_ L2 - https://doi.org/10.1111/j.1468-3083.2006.01746.x DB - PRIME DP - Unbound Medicine ER -