Erhardt Andreas, Hoffmann Arne, Hefter Harald, Häussinger Dieter
Klinik für Gastroenterologie, Hepatologie und Infektiologie des Universitätsklinikums Düsseldorf, Klinik für Neurologie des Universitätsklinikums Düsseldorf.
Liver. 2002 Dec;22(6):474-8. doi: 10.1034/j.1600-0676.2002.01732.x.
There is increasing evidence for an interaction between iron and copper metabolism.
Iron indices (ferritin, transferrin saturation [TS], serum iron), liver parameters, the prevalence and significance of C282Y and H63D HFE mutations were studied in 40 unrelated, Caucasian patients with Wilson's disease and 295 healthy controls. Due to specific treatment Wilson's disease was well controlled in all but one patient.
The allele frequencies for the C282Y (11.3% vs. 6.2%) and the H63D (18.8% vs. 16.4%) mutation did not differ between patients with Wilson's disease and healthy controls. One patient with C282Y homozygous HH and Wilson's disease was identified showing progressive liver disease despite reasonable venesection and copper chelation therapy. No differences in iron indices and liver values were seen between HFE heterozygous and HFE wildtype patients with Wilson's disease. Higher serum ferritin levels were noticed in patients with Wilson's disease compared to healthy controls (149 +/- 26 microg/l vs. 87 +/- 8 microg/l; P < 0.03).
It appears reasonable to assess iron indices in patients with Wilson's disease in order to detect iron overload. HFE mutations other than C282Y homozygosity seem to have no impact on iron indices and liver parameters as long as Wilson's disease is controlled.
铁与铜代谢之间存在相互作用的证据越来越多。
对40例无亲缘关系的白种人威尔逊病患者和295名健康对照者进行了铁指标（铁蛋白、转铁蛋白饱和度[TS]、血清铁）、肝脏参数、C282Y和H63D HFE突变的发生率及意义的研究。除1例患者外，威尔逊病患者均因接受特定治疗而病情得到良好控制。
威尔逊病患者与健康对照者之间C282Y突变（11.3%对6.2%）和H63D突变（18.8%对16.4%）的等位基因频率无差异。发现1例C282Y纯合子HH型威尔逊病患者，尽管进行了合理的放血和铜螯合治疗，但仍出现进行性肝病。威尔逊病患者中HFE杂合子和HFE野生型患者的铁指标和肝脏值无差异。与健康对照者相比，威尔逊病患者的血清铁蛋白水平更高（149±26μg/l对87±8μg/l；P<0.03）。
评估威尔逊病患者的铁指标以检测铁过载似乎是合理的。只要威尔逊病得到控制，除C282Y纯合子以外的HFE突变似乎对铁指标和肝脏参数没有影响。
