| 遗传性铜代谢异常的致病机制及临床诊断 |
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| 引用本文： | 陈淑如,崇雨田,李新华.遗传性铜代谢异常的致病机制及临床诊断[J].临床肝胆病杂志,2019(8):1667-1672. |
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| 作者姓名： | 陈淑如 崇雨田 李新华 |
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| 作者单位： | 中山大学附属第三医院感染性疾病科 |
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| 基金项目： | 中山大学临床医学研究5010计划培育项目(2018024);国家自然基金(81400580) |
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| 摘 要： | 铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍。主要聚焦肝豆状核变性及其相关铜代谢异常的疾病。肝豆状核变性临床表型多样,而胆汁淤积性肝病、遗传性铜蓝蛋白缺乏症及先天性糖基化异常等疾病又常给肝豆状核变性的临床诊断带来混淆和困惑。结合目前研究的最新进展及肝豆状核变性诊疗方面的经验,从肝病角度探讨遗传性铜代谢异常的致病机制及临床诊断。
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| 关 键 词： | 肝疾病 金属代谢缺陷 先天性 铜 诊断 |
Pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism |
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| CHEN Shuru,CHONG Yutian,LI Xinhua.Pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism[J].Chinese Journal of Clinical Hepatology,2019(8):1667-1672. |
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| Authors: | CHEN Shuru CHONG Yutian LI Xinhua |
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| Institution: | (Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, China) |
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| Abstract: | Copper is an important trace element in the human body, and copper deficiency or overload can lead to a series of body dysfunctions. This review focuses on hepatolenticular degeneration and related diseases of abnormal copper metabolism. Hepatolenticular degeneration has various clinical phenotypes, and related diseases, such as cholestatic liver disease, hereditary ceruloplasmin deficiency, and congenital abnormal glycosylation, may bring confusion to the clinical diagnosis of hepatolenticular degeneration. With reference to the latest research advances and experience in the diagnosis and treatment of hepatolenticular degeneration, this article discusses the pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism from the perspective of liver diseases. |
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| Keywords: | liverdiseases metalmetabolism inbornerrors copper diagnosis |
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