迟发性皮肤卟啉症、C282Y、H63D和S65C HFE基因突变与丙型肝炎感染：来自法国南部的一项研究
Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France.
作者信息
Chiavérini Christine, Halimi Gilles, Ouzan Denis, Halfon Philippe, Ortonne Jean-Paul, Lacour Jean-Philippe
机构信息
Department of Dermatology, Archet-2 Hospital, Nice, France.
出版信息
Dermatology. 2003;206(3):212-6. doi: 10.1159/000068895.
BACKGROUND
To evaluate the role of genetic factors in the pathogenesis of porphyria cutanea tarda (PCT) and their association with chronic hepatitis C.
OBJECTIVE
To investigate the relations between hemochromatosis gene (HFE) mutations and PCT in the south of France and their links with chronic hepatitis C virus (HCV) infection.
METHODS
The genotype for the C282Y, H63D and S65C mutations of HFE was determined in 33 patients with PCT, 46 patients with HCV infection but without PCT and 58 controls. Iron status and HCV, HBV and HIV serologies were studied in all patients.
RESULTS
A statistically significant increase in the C282Y mutation was found in PCT patients. No difference was found for H63D or S65C mutations. The prevalence of HCV infection was higher in PCT patients than controls.
CONCLUSIONS
C282Y mutations and HCV infection but not H63D or S65C mutations are PCT-triggering or associated factors in the south of France.
背景
评估遗传因素在迟发性皮肤卟啉症（PCT）发病机制中的作用及其与慢性丙型肝炎的关联。
目的
研究法国南部血色素沉着症基因（HFE）突变与PCT之间的关系及其与慢性丙型肝炎病毒（HCV）感染的联系。
方法
对33例PCT患者、46例HCV感染但无PCT的患者及58例对照者进行HFE基因C282Y、H63D和S65C突变的基因分型。对所有患者进行铁状态及HCV、HBV和HIV血清学研究。
结果
PCT患者中C282Y突变有统计学意义的增加。H63D或S65C突变未发现差异。PCT患者中HCV感染率高于对照者。
结论
在法国南部，C282Y突变和HCV感染而非H63D或S65C突变是PCT的触发因素或相关因素。
Zotero 插件