患有威尔逊病的患者可以发展出缺铜症吗?
Kevin Chevalier1,2, Mickaël Alexandre Obadia1,2, Nouzha Djebrani-Oussedik2,3
1Department of Neurology Rothschild Foundation Hospital Paris France.
威尔逊病患者在长期治疗后可能会出现铜缺乏症 (CD). 贫血和中性缺血是这种情况的关键指标,需要仔细监测和治疗适应.
科学领域:
- 医学遗传学 医学遗传学
- 神经学 神经学
- 血液学 血液学 血液学
背景情况:
- 威尔逊病 (WD) 是由ATP7B基因突变引起的,导致铜过载.
- 终身脱铜处理是必不可少的,但需要谨慎管理,以防止铜缺乏症 (CD).
研究的目的:
- 调查威尔逊病 (WD) 患者中铜缺乏症 (CD) 的特征.
主要方法:
- 在338名WD患者的队列中研究了CD病例.
- 定义CD使用血清铜,可交换铜和尿液铜分泌试验,以及细胞衰减和/或神经损伤.
- 在WD患者中对CD进行了系统的文献审查.
主要成果:
- 在队列中确定了3名患有CD的WD患者,从文献评论中确定了17名患者.
- 大多数患者出现了贫血和中性质减退,经常出现神经症状,如后综合征.
- 适应盐治疗纠正了细胞衰减,但仅部分改善了神经症状.
结论:
- 铜缺乏症 (CD) 在几年治疗后,可以在威尔逊病 (WD) 患者中表现出来.
- 贫血和中性减肥是WD患者中CD的关键预警信号.
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