Background/aim

Wilson’s disease (WD) is a hereditary disorder characterized by abnormal metabolism of copper. For unknown reasons, the clinical picture of this disease appears to be sex-dependent. Because the metabolism of copper and iron is interrelated, we aimed to evaluate whether the variability in the clinical picture of WD could be explained by the sex difference in iron metabolism.

Methods

A total of 138 WD patients were examined in this study: 39 newly diagnosed, treatment naive patients and 99 individuals already treated with decoppering drugs. The serum concentration of ceruloplasmin (Cp) and copper were measured using an enzymatic colorimetric assay and by atomic absorption spectroscopy, respectively. The parameters of iron metabolism were determined by using standard laboratory methods and enzyme immunoassays.

Results

In the treatment naive group men had a higher median serum concentration of ferritin (290.5 vs. 81.0 ng/mL, p < 10⁻⁴), and hepcidin (Hepc) (55.4 vs. 22.8 ng/mL, p < 10^-3) compared to women, and tended to have higher concentration of iron, hemoglobin (HGB) and number of red blood cells (RBC). In the treated group men had higher median ferritin (122.0 vs. 46.0 ng/mL, p < 10⁻⁴), Hepc (23.5 vs. 10.8 ng/mL, p < 10⁻⁴), iron (102.5 vs. 68.0 μg/dL, p < 10⁻⁴), HGB (15.0 vs. 13.2 g/dL, p < 10⁻⁴), and RBC (5.0 vs. 4.5 M/L, p < 10⁻⁴) than women.

Conclusion

Iron metabolism differs between men and women with WD, which may partly explain the sex difference noted in the disease manifestation.

中文翻译：

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铁代谢的差异可能部分解释了威尔逊病表现的性别相关变异性。

背景/目标

威尔森氏病 (WD) 是一种以铜代谢异常为特征的遗传性疾病。由于未知原因，这种疾病的临床表现似乎与性别有关。由于铜和铁的代谢是相互关联的，我们旨在评估 WD 临床表现的变异性是否可以用铁代谢的性别差异来解释。

方法

在这项研究中总共检查了 138 名 WD 患者：39 名新诊断的、未接受过治疗的患者和 99 名已经用去铜药物治疗的个体。分别使用酶比色法和原子吸收光谱法测量血浆铜蓝蛋白 (Cp) 和铜的血清浓度。铁代谢参数通过使用标准实验室方法和酶免疫测定法测定。

结果

在未治疗组中，男性血清铁蛋白浓度中值较高（290.5 与 81.0 ng/mL，p  < 10 ^-4）和铁调素（Hepc）（55.4 与 22.8 ng/mL，p  < 10 ^-3）与女性相比，铁、血红蛋白 (HGB) 和红细胞 (RBC) 的含量往往更高。在治疗组中，男性的铁蛋白中位数较高（122.0 对 46.0 ng/mL，p  < 10 ^-4）、Hepc（23.5 对 10.8 ng/mL，p  < 10 ^-4）、铁（102.5 对 68.0 μg/ dL，p  < 10 ^-4）、HGB（15.0 对 13.2 g/dL，p  < 10 ^-4）和 RBC（5.0 对 4.5 M/L，p < 10 ^-4 ) 比女性。

结论

WD 男性和女性的铁代谢不同，这可能部分解释了疾病表现中注意到的性别差异。