PDF(Pubmed)
Abstract：
BACKGROUND: Treatment of Wilson\'s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment patterns, symptoms and outcomes associated with CD.
METHODS: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, the PubMed database was searched up to 6 April 2023.
RESULTS: Across 17 articles, 20 cases of CD were described, most commonly (15 cases) in WD patients treated with zinc salts (ZS), less often on combined chelator and ZS therapy (3 cases), molybdate salts plus ZS (1), or molybdate alone (1). CD symptoms occurred insidiously, including sideroblastic anemia, neutropenia, axonal sensory neuropathy, posterior cord myelopathy and increased ratio of epileptic seizures (or epilepsy). CD diagnosis was based on symptoms and severely reduced urinary copper excretion (<20 µg/24 h [<0.3 µmol/24 h] on ZS, or <100 µg/24 h [<1.6 µmol/24 h] on chelators) with low total serum copper and ceruloplasmin.
CONCLUSIONS: Awareness of CD and regular monitoring of copper metabolism is needed during WD treatment. Temporary cessation of anti-copper treatment usually reverses serum copper reductions as well as pancytopenia; however, some symptoms, especially neuropathy and myelopathy, may persist.
METHODS: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, the PubMed database was searched up to 6 April 2023.
RESULTS: Across 17 articles, 20 cases of CD were described, most commonly (15 cases) in WD patients treated with zinc salts (ZS), less often on combined chelator and ZS therapy (3 cases), molybdate salts plus ZS (1), or molybdate alone (1). CD symptoms occurred insidiously, including sideroblastic anemia, neutropenia, axonal sensory neuropathy, posterior cord myelopathy and increased ratio of epileptic seizures (or epilepsy). CD diagnosis was based on symptoms and severely reduced urinary copper excretion (<20 µg/24 h [<0.3 µmol/24 h] on ZS, or <100 µg/24 h [<1.6 µmol/24 h] on chelators) with low total serum copper and ceruloplasmin.
CONCLUSIONS: Awareness of CD and regular monitoring of copper metabolism is needed during WD treatment. Temporary cessation of anti-copper treatment usually reverses serum copper reductions as well as pancytopenia; however, some symptoms, especially neuropathy and myelopathy, may persist.
摘要：
背景：威尔逊病（WD）的治疗，一种以铜超负荷为特征的遗传性疾病，是终身的，并且有可能发生铜缺乏症（CD）。我们系统地回顾了文献来描述治疗模式，与CD相关的症状和结果。
方法：使用系统评价和荟萃分析（PRISMA）指南的首选报告项目，截至2023年4月6日，对PubMed数据库进行了搜索。
结果：共17篇文章，描述了20例CD，最常见的（15例）在接受锌盐（ZS）治疗的WD患者中，较少使用螯合剂和ZS联合治疗（3例），钼酸盐加ZS(1)，或单独的钼酸盐（1）。CD症状隐匿发生，包括铁粒幼细胞性贫血,中性粒细胞减少症,轴突感觉神经病,脊髓后脊髓病变和癫痫发作（或癫痫）的比例增加。CD诊断基于症状和尿铜排泄严重减少（ZS<20µg/24h[<0.3µmol/24h]，或在螯合剂上<100µg/24小时[<1.6µmol/24小时]），血清铜和铜蓝蛋白总量低。
结论：在WD治疗期间需要了解CD并定期监测铜代谢。暂时停止抗铜治疗通常会逆转血清铜减少以及全血细胞减少;然而，一些症状,尤其是神经病和脊髓病，可以坚持。
方法：使用系统评价和荟萃分析（PRISMA）指南的首选报告项目，截至2023年4月6日，对PubMed数据库进行了搜索。
结果：共17篇文章，描述了20例CD，最常见的（15例）在接受锌盐（ZS）治疗的WD患者中，较少使用螯合剂和ZS联合治疗（3例），钼酸盐加ZS(1)，或单独的钼酸盐（1）。CD症状隐匿发生，包括铁粒幼细胞性贫血,中性粒细胞减少症,轴突感觉神经病,脊髓后脊髓病变和癫痫发作（或癫痫）的比例增加。CD诊断基于症状和尿铜排泄严重减少（ZS<20µg/24h[<0.3µmol/24h]，或在螯合剂上<100µg/24小时[<1.6µmol/24小时]），血清铜和铜蓝蛋白总量低。
结论：在WD治疗期间需要了解CD并定期监测铜代谢。暂时停止抗铜治疗通常会逆转血清铜减少以及全血细胞减少;然而，一些症状,尤其是神经病和脊髓病，可以坚持。
