Hift R J, Corrigall A V, Hancock V, Kannemeyer J, Kirsch R E, Meissner P N
MRC/UCT Liver Research Centre, Department of Medicine, University of Cape Town, Observatory, 7925 South Africa.
Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):853-9.
A number of factors, including increased iron stores and alcohol consumption, are known to be associated with the development of porphyria cutanea tarda (PCT) in susceptible individuals. Recent reports have described a significant association between inheritance of the C282Y and H63D mutations in the HFE gene, associated with genetic hemochromatosis (GH) and PCT. A strong association between hepatitis C virus infection and PCT has also been demonstrated, while case reports record a link between human immunodeficiency virus (HIV) and PCT. We have investigated the frequency of these factors in a racially-mixed population of patients with PCT in Cape Town, South Africa. 57 patients with PCT drawn from three ethnic groups were screened for the presence of the C282Y and H63D mutations linked to GH, and the prevalences were compared with corresponding healthy control populations. The seroprevalence of markers for HCV, hepatitis B (HBV) and HIV infection were examined in 28 of these. In the control populations, we found that both the C282Y and H63D mutations are highly prevalent in South Africans of European origin. In a population of mixed or Asian origin, the C282Y mutation is very rare whereas the H63D mutation is common. Neither mutation was encountered in any African subject. Both mutations are associated with PCT, but the association is dependent on the ethnic origins of the population to which the patient belongs. In contrast to other studies, HCV infection is numerically unimportant in PCT in our patients. HIV infection is increasingly encountered in our patients with PCT, but the strength of the association cannot be determined in view of the high background prevalence of HIV infection in some sectors of the South African population. The contribution of specific risk factors may be heavily dependent on the population from which patients are drawn, and care should be taken in extrapolating from observations in one racial or geographic population to any other.
已知包括铁储存增加和酒精摄入在内的多种因素与易感个体迟发性皮肤卟啉症（PCT）的发生有关。最近的报告描述了与遗传性血色素沉着症（GH）和PCT相关的HFE基因C282Y和H63D突变的遗传之间存在显著关联。丙型肝炎病毒感染与PCT之间也已证实存在强关联，而病例报告记录了人类免疫缺陷病毒（HIV）与PCT之间的联系。我们在南非开普敦一个种族混合的PCT患者群体中调查了这些因素的发生频率。从三个种族群体中抽取的57例PCT患者被筛查与GH相关的C282Y和H63D突变的存在情况，并将其患病率与相应的健康对照人群进行比较。对其中28例患者检测了丙型肝炎病毒（HCV）、乙型肝炎（HBV）和HIV感染标志物的血清流行率。在对照人群中，我们发现C282Y和H63D突变在欧洲裔南非人中非常普遍。在混合或亚洲裔人群中，C282Y突变非常罕见，而H63D突变很常见。在任何非洲受试者中均未发现这两种突变。这两种突变都与PCT相关，但这种关联取决于患者所属人群的种族起源。与其他研究不同，在我们的患者中，HCV感染在PCT中的数量并不重要。在我们的PCT患者中越来越多地遇到HIV感染，但鉴于南非部分人群中HIV感染的高背景患病率，无法确定这种关联的强度。特定风险因素的作用可能在很大程度上取决于患者所来自的人群，在从一个种族或地理人群的观察结果推断到任何其他人群时应谨慎。
