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Risk factors for porphyria cutanea tarda -the iron/HFE connection

机译:皮肤卟啉病的危险因素-铁/ HFE连接

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摘要

We thank Dr Castiella and colleagues (1) for their interest in our recent review (2). We agree that the role and importance of HFE genetic variations as risk factors for hepatic iron loading and for pathogenesis of porphyria cutanea tarda are variable. As they again point out, their recent report failed to find a significantly increased prevalence of either the C282Y or the H63D mutations in HFE among 54 subjects from the Basque region of Spain (3, 4).
机译:感谢Castiella博士及其同事(1)对我们最近的评论(2)的关注。我们同意,HFE遗传变异作为肝铁负荷和皮肤卟啉卟啉菌发病机理的危险因素的作用和重要性是可变的。正如他们再次指出的那样,他们的最新报告未能发现来自西班牙巴斯克地区的54名受试者中HFE中C282Y或H63D突变的患病率显着增加(3,4)。

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