遗传性铜代谢异常的致病机制及临床诊断

陈淑如; 崇雨田; 李新华

doi:10.3969/j.issn.1001-5256.2019.08.003

遗传性铜代谢异常的致病机制及临床诊断

DOI: 10.3969/j.issn.1001-5256.2019.08.003

中山大学附属第三医院感染性疾病科

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)；

详细信息

中图分类号: R596
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- 文章访问数: 1935
- HTML全文浏览量: 47
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- 被引次数: 0
出版历程
- 收稿日期: 2019-06-24
- 出版日期: 2019-08-20

Pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism

Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-Sen University

Research funding:

摘要

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。
- 肝疾病 /
- 金属代谢缺陷,先天性 /
- 铜 /
- 诊断
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.
- liver diseases /
- metal metabolism, inborn errors /
- copper /
- diagnosis

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参考文献(28)

[1] LORINCZ MT. Wilson disease and related copper disorders[J]. Handb Clin Neurol, 2018, 147:279-292.

[2] CZONKOWSKA A, LITWIN T, DUSEK P, et al. Wilson disease[J]. Nat Rev Dis Primers, 2018, 4 (1) :21.

[3] VAIRO FPE, CHWAL BC, PERINI S, et al. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease[J]. Mol Genet Metab, 2019, 126 (1) :6-13.

[4] BANDMANN O, WEISS KH, KALER SG. Wilson's disease and other neurological copper disorders[J]. Lancet Neurol, 2015, 14 (1) :103-113.

[5] HERMANN W. Classification and differential diagnosis of Wilson's disease[J]. Ann Transl Med, 2019, 7 (Suppl 2) :s63.

[6] KALER SG. Inborn errors of copper metabolism[J]. Handb Clin Neurol, 2013, 113:1745-1754.

[7] MADSEN E, GITLIN JD. Copper and iron disorders of the brain[J]. Annu Rev Neurosci, 2007, 30:317-337.

[8] ROBERTS EA, SCHILSKY ML, American Association for Study of Liver Diseases (AASLD) . Diagnosis and treatment of Wilson disease:An update[J]. Hepatology, 2008, 47 (6) :2089-2111.

[9] LI XH, ZHANG XX. Progress in diagnosis and management of Wilson's disease[J]. J Diagn Concepts Pract, 2009, 8 (2) :222-229. (in Chinese) 李新华, 张欣欣.肝豆状核变性诊疗进展———美国肝病学会诊疗指南专题报道[J].诊断学理论与实践, 2009, 8 (2) :222-229.

[10] European Association for Study of Liver. EASL clinical practice guidelines:Wilson's disease[J]. J Hepatol, 2012, 56 (3) :671-685.

[11] SCHEIBER IF, BRHA R, DUEK P. Pathogenesis of Wilson disease[J]. Handb Clin Neurol, 2017, 142:43-55.

[12] LO C, BANDMANN O. Epidemiology and introduction to the clinical presentation of Wilson disease[J]. Handb Clin Neurol, 2017, 142:7-17.

[13] CHEN SR, CHONG YT, LI XH. Clinical diagnosis of genetic liver disease[J]. Chin J Hepatol, 2018, 26 (12) :894-897. (in Chinese) 陈淑如, 崇雨田, 李新华.遗传代谢性肝病的临床基因诊断[J].中华肝脏病杂志, 2018, 26 (12) :894-897.

[14] SCHILSKY ML. Wilson disease:Diagnosis, treatment, and follow-up[J]. Clin Liver Dis, 2017, 21 (4) :755-767.

[15] LUTSENKO S, LESHANE ES, SHINDE U. Biochemical basis of regulation of human copper-transporting ATPases[J].Arch Biochem Biophys, 2007, 463 (2) :134-148.

[16] Parkinson's Disease and Movement Disorders Study Group, Neurology Branch of Chinese Medical Association; Inherited Disease Study Group, Neurology Branch of Chinese Medical Association. Guidelines for the diagnosis and treatment of hepatolenticular degeneration[J]. Chin J Neurol, 2008, 41 (8) :566-569. (in Chinese) 中华医学会神经病学分会帕金森病及运动障碍学组, 中华医学会神经病学分会遗传病学组.肝豆状核变性的诊断与治疗指南[J].中华神经科杂志, 2008, 41 (8) :566-569.

[17] YANG X, TONG DJ, LIANG J, et al. Ceruloplasmin level of patients with liver disease in China[J]. Chin J Intern Med, 2005, 44 (1) :13-15. (in Chinese) 杨旭, 童德军, 梁骏, 等.中国肝病患者血清铜蓝蛋白水平的研究[J].中华内科杂志, 2005, 44 (1) :13-15.

[18] YANG X, TANG XP, ZHANG YH, et al. Prospective evaluation of the diagnostic accuracy of hepatic copper content, as determined using the entire core of a liver biopsy sample[J].Hepatology, 2015, 62 (6) :1731-1741.

[19] MIYAJIMA H. Aceruloplasminemia[J]. Neuropathology, 2015, 35 (1) :83-90.

[20] MARCHI G, BUSTI F, LIRA ZIDANES A, et al. Aceruloplasminemia:A severe neurodegenerative disorder deserving an early diagnosis[J]. Front Neurosci, 2019, 13:325.

[21] KONO S. Aceruloplasminemia:An update[J]. Int Rev Neurobiol, 2013, 110:125-151.

[22] NG BG, FREEZE HH. Perspectives on glycosylation and its congenital disorders[J]. Trends Genet, 2018, 34 (6) :466-476.

[23] MARQUES-DA-SILVA D, DOS REIS FERREIRA V, MONTICELLI M, et al. Liver involvement in congenital disorders of glycosylation (CDG) . A systematic review of the literature[J]. J Inherit Metab Dis, 2017, 40 (2) :195-207.

[24] JANSEN JC, CIRAK S, van SCHERPENZEEL M, et al. CCDC115deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation[J]. Am J Hum Genet, 2016, 98 (2) :310-321.

[25] JANSEN JC, TIMAL S, van SCHERPENZEEL M, et al. TMEM199deficiency is a disorder of Golgi homeostasis characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylation[J]. Am J Hum Genet, 2016, 98 (2) :322-330.

[26] JANSEN EJ, TIMAL S, RYAN M, et al. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation[J]. Nat Commun, 2016, 7:11600.

[27] GIRARD M, POUJOIS A, FABRE M, et al. CCDC115-CDG:A new rare and misleading inherited cause of liver disease[J]. Mol Genet Metab, 2018, 124 (3) :228-235.

[28] European Association for the Study of the Liver. EASL clinical practice guidelines:Management of cholestatic liver diseases[J]. J Hepatol, 2009, 51 (2) :237-267.

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