Cribier Bernard, Chiaverini Christine, Dali-Youcef Nassim, Schmitt Michèle, Grima Michèle, Hirth Christine, Lacour Jean-Philippe, Chosidow Olivier
Clinique Dermatologique, Université Louis Pasteur, Faculté de Médecine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Dermatology. 2009;218(1):15-21. doi: 10.1159/000173696. Epub 2008 Nov 12.
Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
In order to examine the links between these factors, we conducted a multicentre prospective case-control study.
PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.
PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.
In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.
血色素沉着症基因（HFE）突变和丙型肝炎病毒（HCV）是迟发性皮肤卟啉症（PCT）已知的风险因素，但与红细胞尿卟啉原脱羧酶（UROD）的相互作用很少被提及。
为了研究这些因素之间的联系，我们进行了一项多中心前瞻性病例对照研究。
将伴有（n = 32）或不伴有HCV（n = 28）的PCT患者与HCV阳性（n = 32）和HCV阴性对照（n = 28）进行匹配。通过PCR分析HFE突变（C282Y和H63D）。
PCT+/HCV+患者比PCT+/HCV-患者年轻（46.9岁对58.2岁，p < 0.001）。HCV阳性和HCV阴性患者的UROD值无显著差异。C282Y和H63D在PCT+患者中比在对照中更常见，但根据HCV血清学阳性情况，HFE基因型没有差异。在PCT患者和对照中，HFE突变情况下的平均UROD较低。
在法国患者中，HCV感染可能是PCT的主要病因。它与HFE突变无关，尽管它们与PCT显著相关。红细胞UROD水平低可能是一个易感因素。HFE突变患者的UROD值较低，提示HFE基因型与UROD水平之间可能存在相互作用。
