Trocello J-M, Chappuis P, El Balkhi S, Poupon J, Leyendecker A, Chaine P, Woimant F
Centre national de référence pour la maladie de Wilson, service de neurologie, hôpital Lariboisière, Paris, France.
Rev Med Interne. 2010 Nov;31(11):750-6. doi: 10.1016/j.revmed.2009.11.012.
Copper is essential for many enzymatic reactions and in neurotransmitter biosynthesis. Its deficiency or its excess has consequences on many organs, especially the liver and the brain. The biochemical tests performed in case of suspicion of copper metabolism disorder are difficult to analyse. They include the measurement of serum ceruloplasmin, serum copper and 24h urinary copper excretion. The interpretation must take into account the clinical features. We distinguish mainly: (1) copper deficiency, acquired in malabsorption or in copper diet deficiency, or related to a genetic disease (Menkes disease); (2) copper overload, acquired or from a genetic origin (Wilson disease); (3) aceruloplasminemia, reducing ferroxidase activity leading to iron overload. It is important to diagnose these diseases as some of them have an effective treatment if it is started early enough.
铜对许多酶促反应以及神经递质的生物合成至关重要。其缺乏或过量会对许多器官产生影响,尤其是肝脏和大脑。怀疑有铜代谢紊乱时所进行的生化检测难以分析。这些检测包括血清铜蓝蛋白、血清铜和24小时尿铜排泄量的测定。解读结果时必须考虑临床特征。主要可分为:(1)铜缺乏,由吸收不良或铜饮食缺乏引起,或与遗传疾病(门克斯病)相关;(2)铜过载,后天获得性或遗传所致(威尔逊病);(3)无铜蓝蛋白血症,降低铁氧化酶活性导致铁过载。诊断这些疾病很重要,因为其中一些疾病如果尽早开始治疗是有有效疗法的。