血色素沉着症基因（HFE）中的C282Y突变和丙型肝炎病毒感染是澳大利亚患者迟发性皮肤卟啉症的独立辅助因素。

The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients.

作者信息

Stuart K A, Busfield F, Jazwinska E C, Gibson P, Butterworth L A, Cooksley W G, Powell L W, Crawford D H

机构信息

Department of Gastroenterology, The Royal Brisbane Hospital, Australia.

出版信息

J Hepatol. 1998 Mar;28(3):404-9. doi: 10.1016/s0168-8278(98)80313-9.

DOI:10.1016/s0168-8278(98)80313-9

PMID:9551677

Abstract

BACKGROUND/AIM: Whether mutations in the putative haemochromatosis gene (HFE) and hepatitis C virus act independently to precipitate porphyria cutanea tarda is unknown. The aim of the study was to investigate the relationship between mutations in HFE, hepatitis C and porphyria cutanea tarda.

METHODS

The frequencies of the C282Y and H63D mutations in HFE were determined in 27 patients with porphyria cutanea tarda and compared with the reported control frequencies. In addition, the presence of hepatitis C virus infection was identified and related to the patients' HFE status.

RESULTS

The C282Y mutation was found in 44.4% of patients compared with the control frequency of 12% (p<0.001). Three patients were homozygous for the C282Y mutation, two of whom did not meet current clinical diagnostic criteria for expressed haemochromatosis. The proportion of patients with the H63D mutation did not differ from the reported control frequency. The mean transferrin saturation and serum ferritin concentration were similar in porphyria cutanea tarda patients who were homozygous normal and heterozygous for the C282Y mutation, but greater in both groups than previously reported in healthy controls. Seven (25.9%) patients were anti-HCV IgG positive. None of these patients carried the C282Y mutation. Porphyria cutanea tarda patients heterozygous for the C282Y mutation and patients with anti-HCV antibodies had elevated transferrin saturations and serum ferritin concentrations.

CONCLUSIONS

The raised frequency of the C282Y mutation in porphyria cutanea tarda indicates that this mutation is likely to be a predisposing factor. However, abnormalities of iron indices also exist in porphyria cutanea tarda patients without mutations in HFE. Hepatitis C virus infection is likely to be another common precipitating factor for porphyria cutanea tarda which acts independently of the C282Y mutation.

摘要

背景/目的：尚不清楚假定的血色素沉着症基因（HFE）突变与丙型肝炎病毒是否独立作用引发迟发性皮肤卟啉症。本研究的目的是调查HFE突变、丙型肝炎与迟发性皮肤卟啉症之间的关系。

方法

测定了27例迟发性皮肤卟啉症患者中HFE基因C282Y和H63D突变的频率，并与报道的对照频率进行比较。此外，确定丙型肝炎病毒感染的存在情况，并将其与患者的HFE状态相关联。

结果

44.4%的患者发现有C282Y突变，而对照频率为12%（p<0.001）。3例患者为C282Y突变纯合子，其中2例不符合目前显性血色素沉着症的临床诊断标准。有H63D突变的患者比例与报道的对照频率无差异。C282Y突变纯合正常和杂合的迟发性皮肤卟啉症患者的平均转铁蛋白饱和度和血清铁蛋白浓度相似，但两组均高于先前报道的健康对照。7例（25.9%）患者抗-HCV IgG阳性。这些患者均未携带C282Y突变。C282Y突变杂合的迟发性皮肤卟啉症患者和有抗-HCV抗体的患者转铁蛋白饱和度和血清铁蛋白浓度升高。