| 肝豆状核变性发病机制探讨 |
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| 引用本文： | 张忠胜.肝豆状核变性发病机制探讨[J].医学综述,2009,15(1):121-123. |
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| 作者姓名： | 张忠胜 |
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| 作者单位： | 广西钦州市第二人民医院神经内科,广西钦州,535000 |
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| 摘 要： | 肝豆状核变性是一种铜代谢障碍的常染色体隐性遗传病。中国人的基因突变热点与西方人的突变热点不同。铜蓝蛋白是肝豆状核变性重要的生化指标,目前对铜蓝蛋白与肝豆状核变性的因果关系的认识仍有误区。本病与铜的代谢密切相关,对发病机制的理解有助于准确地认识本病。
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| 关 键 词： | 肝豆状核变性 基因突变 铜蓝蛋白 |
Discussion on the Pathogenesis of Wilson Disease |
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| ZHANG Zhong-sheng.Discussion on the Pathogenesis of Wilson Disease[J].Medical Recapitulate,2009,15(1):121-123. |
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| Authors: | ZHANG Zhong-sheng |
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| Institution: | ZHANG Zhong-sheng. ( Department of Neurology, the Second Hospital of Qin-zhou, Guangxi 535000, China ) |
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| Abstract: | Wilson＇s disease is a autosomal recessive inherited disease characteristic by metabolic disorder of copper. The hot mutations points in Chinese people are different from the Westerners. Ceruloplasmin is an important biochemical marker of Wilson disease, but the cognitions of the relation between Ceruloplasmin and Wilson disease is still unclear. Wilson＇s disease relates with copper＇s metabolism,and the understanding of its pathogenesis is helpfu to recognize it accurately. |
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| Keywords: | Wilson＇s disease Gene mutation ： Ceruloplasmin |
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