捷克迟发性皮肤卟啉症患者中HFE基因突变的高发生率。
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.
作者信息
Kratka K, Dostalikova-Cimburova M, Michalikova H, Stransky J, Vranova J, Horak J
机构信息
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.
出版信息
Br J Dermatol. 2008 Sep;159(3):585-90. doi: 10.1111/j.1365-2133.2008.08693.x. Epub 2008 Jun 28.
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.
背景
铁过载和丙型肝炎病毒（HCV）感染是被认为在迟发性皮肤卟啉症（PCT）发病机制中起作用的独立因素。
目的
确定捷克人群中PCT患者的HFE基因突变p.Cys282Tyr（C282Y）、p.His63Asp（H63D）和p.Ser65Cys（S65C）、TFR2基因的p.Tyr250X（Y250X）突变以及HCV感染的患病率，并比较各基因型之间的铁状态。
方法
对63例PCT患者进行铁代谢指标、突变分析结果及HCV感染血清学标志物检测。
结果
PCT患者中70%检测到HFE基因突变，而对照组为35%（P<0.001）。所有基因型的血清铁蛋白平均水平均升高，p.Cys282Tyr突变纯合子中最高。仅8%的PCT患者检测到HCV感染。
结论
PCT患者中观察到p.Cys282Tyr和p.His63Asp突变的患病率非常高，伴有轻度铁过载，且与基因型有关。
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