Estudi de les mutacions dels exons 2 i 4 del gen HFE en pacients amb porfiria cutània tarda esporàdica
SUMMARY: Title: STUDY ON EXONS 2 AND 4 HFE GENE MUTATIONS IN PATIENTS WITH SPORADIC PORPHYRIA CUTANEA TARDA HYPOTHESIS: the iron overload frequently observed in patients with Porphyria Cutanea Tarda (PCT) may be associated with the mutations that are usually found in the HFE gene in patients with hemochromatosis (C282Y and H63D mutations). These mutations may be independent of other risk factors of PCT, such as VHC infection and alcohol intake OBJECTIVES: 1-To establish the prevalences of mutations C282Y and H63D of HFE gene in patients with sporadic PCT in our environment. 2-To establish the relationship between the mutations in HFE gene in patients with sporadic PCT and iron overload. 3-To establish the relationship between these mutations and VHC infection DESIGN: Retrospective case-control study. SETTING: A large clinical and research institute for the study and treatment of cutaneous diseases in Barcelona, Spain. PATIENTS: Ninety-nine patients with PCT and one hundred and twenty six control patients (76 healthy subjects and 50 patients chronically infected with HCV), were included in the study. 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 non-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.
Advisor:Herrero Mateu, Carmen
School:Universitat de Barcelona
Source Type:Master's Thesis
Date of Publication:07/19/2006