中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R

Clinical features of Wilson's disease: An analysis of 83 cases

DOI: 10.3969/j.issn.1001-5256.2022.08.023
More Information
  • Corresponding author: KONG Li, kongliyouxiang@sina.com(ORCID: 0000-0002-8179-8100)
  • Received Date: 2022-01-12
  • Accepted Date: 2022-02-28
  • Published Date: 2022-08-20
  •   Objective  To summarize the clinical features of patients with Wilson's disease (WD).  Methods  A retrospective analysis was performed for the clinical data of 83 patients with WD who were admitted to The Third Hospital of Hebei Medical University from April 2013 to August 2021, including clinical manifestations, Imaging examinations, laboratory examinations, liver histopathological examinations, and ATP7B gene testing results. The patients were divided into groups based on different clinical types. A one-way analysis of variance was used for comparison between groups.  Results  The youngest age was 3 years for the 83 patients with WD, among whom 39 (46.99%) had an age of ≤18 years, with a mean age of 21.16±14.87 years for all 83 patients. Of all patients, 63.86% had liver-type WD, 31 patients (37.35%) had developed liver cirrhosis at the time of consultation, and 5 patients (6.2%) attended the hospital due to acute or acute-on-chronic liver failure. Of all patients, 62(74.69%) were positive for corneal K-F ring, and the positive rate of K-F ring was 66.04% in the patients with liver-type WD. Among the 83 patients, 79(95.18%) had a reduction in blood ceruloplasmin, and 73(87.95%) had an increase in 24-hour urine copper. The liver histopathological results of 25 patients showed varying degrees of inflammation, fibrosis, steatosis, and copper particle deposition in liver tissue. The ATP7B gene testing results of 25 patients showed that c.2333G > T/p.R778L of exon 8 was the most common mutation site.  Conclusion  Most patients with WD have the manifestation of liver diseases, and the examinations of corneal K-F ring, serum ceruloplasmin, and 24-h urine copper have their own limitations. Liver pathology and ATP7B gene testing can be performed when it is unable to make a confirmed diagnosis.

     

  • [1]
    CHENG N, WANG K, HU W, et al. Wilson disease in the South Chinese Han population[J]. Can J Neurol Sci, 2014, 41(3): 363-367. DOI: 10.1017/s0317167100017315.
    [2]
    SCHEIBER IF, BRǓHA R, DUŠEK P. Pathogenesis of Wilson disease[J]. Handb Clin Neurol, 2017, 142: 43-55. DOI: 10.1016/B978-0-444-63625-6.00005-7.
    [3]
    Neurogenetics Group, Neurology Branch of Chinese Medical Association. Chinese guidelines for diagnosis and treatment of Wilson's disease 2021[J]. Chin J Neurol, 2021, 54(4): 310-319. DOI: 10.3760/cma.j.cn113694-20200826-00661.

    中华医学会神经病学分会神经遗传学组. 中国肝豆状核变性诊治指南2021[J]. 中华神经科杂志, 2021, 54(4): 310-319. DOI: 10.3760/cma.j.cn113694-20200826-00661.
    [4]
    YANG X. Update on diagnosis and treatment of Wilson disease in China[J]. J Clin Hepatol, 2013, 29(12): 905-908. DOI: 10.3969/j.issn.1001-5256.2013.12.008.

    杨旭. 更新观念, 提高我国肝豆状核变性诊治的临床水平[J]. 临床肝胆病杂志, 2013, 29(12): 905-908. DOI: 10.3969/j.issn.1001-5256.2013.12.008.
    [5]
    ABUDUXIKUER K, LI LT, QIU YL, et al. Wilson disease with hepatic presentation in an eight-month-old boy[J]. World J Gastroenterol, 2015, 21(29): 8981-8984. DOI: 10.3748/wjg.v21.i29.8981.
    [6]
    FIGUS A, ANGIUS A, LOUDIANOS G, et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations[J]. Am J Hum Genet, 1995, 57(6): 1318-1324.
    [7]
    WIJAYASIRI P, HAYRE J, NICHOLSON ES, et al. Estimating the clinical prevalence of Wilson's disease in the UK[J]. JHEP Rep, 2021, 3(5): 100329. DOI: 10.1016/j.jhepr.2021.100329.
    [8]
    ZHOU SM, GUO LP, CAI WF, et al. Latest advances in the treatment of hepatolenticular degeneration[J]. J Clin Hepatol, 2020, 36(1): 218-221. DOI: 10.3969/j.issn.1001-5256.2020.01.052.

    周思敏, 郭丽萍, 蔡王锋, 等. 肝豆状核变性的治疗现状[J]. 临床肝胆病杂志, 2020, 36(1): 218-221. DOI: 10.3969/j.issn.1001-5256.2020.01.052.
    [9]
    ZHANG DF, TENG JF. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease[J]. Genet Mol Res, 2016, 15(3): 1-9. DOI: 10.4238/gmr.15038746.
    [10]
    ALAM ST, RAHMAN MM, ISLAM KA, et al. Neurologic manifestations, diagnosis and management of Wilson's disease in children—an update[J]. Mymensingh Med J, 2014, 23(1): 195-203.
    [11]
    IORIO R, D'AMBROSI M, MARCELLINI M, et al. Serum transaminases in children with Wilson's disease[J]. J Pediatr Gastroenterol Nutr, 2004, 39(4): 331-336. DOI: 10.1097/00005176-200410000-00006.
    [12]
    DONG QY, WU ZY. Advance in the pathogenesis and treatment of Wilson disease[J]. Transl Neurodegener, 2012, 1(1): 23. DOI: 10.1186/2047-9158-1-23.
    [13]
    SENIÓW J, MROZIAK B, CZŁONKOWSKA A, et al. Self-rated emotional functioning of patients with neurological or asymptomatic form of Wilson's disease[J]. Clin Neuropsychol, 2003, 17(3): 367-373. DOI: 10.1076/clin.17.3.367.18085.
    [14]
    HUANG P, DONG T, LI X, et al. Comparison the changes of related indexes of different traditional Chinese medicine syndrome types in patients with hepatolenticular degeneration[J]. 中国医药导报, 2022, 19(5): 163-166. https://www.cnki.com.cn/Article/CJFDTOTAL-YYCY202205034.htm

    黄鹏, 董婷, 李祥, 等. 肝豆状核变性患者不同中医证型相关指标的变化比较[J]. 中国医药导报, 2022, 19(5): 163-166. https://www.cnki.com.cn/Article/CJFDTOTAL-YYCY202205034.htm
    [15]
    COFFEY AJ, DURKIE M, HAGUE S, et al. A genetic study of Wilson's disease in the United Kingdom[J]. Brain, 2013, 136(Pt 5): 1476-1487. DOI: 10.1093/brain/awt035.
    [16]
    KROLL CA, FERBER MJ, DAWSON BD, et al. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease[J]. Mol Genet Metab, 2006, 89(1-2): 134-138. DOI: 10.1016/j.ymgme.2006.03.008.
    [17]
    HE N, WANG J, ZHAO LB, et al. One case of Wilson's disease in adults with right knee joint gull as initial symptom[J]. J Clin Hepatol, 2015, 31(2): 286-287. DOI: 10.3969/j.issn.1001-5256.2015.02.037.

    贺娜, 王俊, 赵龙斌, 等. 右膝关节肿痛为首发症状的成人肝豆状核变性1例报告[J]. 临床肝胆病杂志, 2015, 31(2): 286-287. DOI: 10.3969/j.issn.1001-5256.2015.02.037.
    [18]
    YU H, XIE JJ, CHEN YC, et al. Clinical features and outcome in patients with osseomuscular type of Wilson's disease[J]. BMC Neurol, 2017, 17(1): 34. DOI: 10.1186/s12883-017-0818-1.
    [19]
    ZHAO T, FANG Z, TIAN J, et al. Imaging Kayser-Fleischer ring in Wilson disease using in vivo confocal microscopy[J]. Cornea, 2019, 38(3): 332-337. DOI: 10.1097/ICO.0000000000001844.
    [20]
    LUO JH, LIANG N. Clinical analysis of the relationship between corneal KF ring and hepatolenticular degeneration[J]. Chin J Integr Tradit West Med Liver Dis, 2011, 21(4): 241-242. DOI: 10.3969/j.issn.1005-0264.2011.04.020.

    罗继红, 梁娜. 角膜K-F环与肝豆状核变性关系的临床分析[J]. 中西医结合肝病杂志, 2011, 21(4): 241-242. DOI: 10.3969/j.issn.1005-0264.2011.04.020.
    [21]
    European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease[J]. J Hepatol, 2012, 56(3): 671-685. DOI: 10.1016/j.jhep.2011.11.007.
    [22]
    SUN YP, HAN T. Analysis of head MRI manifestations of hepatolenticular degeneration and its correlation with clinical symptoms[J]. J Imag Res Med Appl, 2018, 2(2): 171-172. DOI: 10.3969/j.issn.2096-3807.2018.02.109.

    孙雅苹, 韩彤. 肝豆状核变性头部MRI表现及其与临床症状相关性分析[J]. 影像研究与医学应用, 2018, 2(2): 171-172. DOI: 10.3969/j.issn.2096-3807.2018.02.109.
    [23]
    CHENG N, WANG H, WU W, et al. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease[J]. Clin Genet, 2017, 92(1): 69-79. DOI: 10.1111/cge.12951.
    [24]
    ZHANG YG, NAN YM, ZHAO SX, et al. Clinicopathological features of Wilson disease: report of 29 cases[J]. Natl Med J China, 2013, 93(18): 1422-1425. DOI: 10.3760/cma.j.issn.0376-2491.2013.18.014.

    张玉果, 南月敏, 赵素贤, 等. 29例肝豆状核变性临床病理特点分析[J]. 中华医学杂志, 2013, 93(18): 1422-1425. DOI: 10.3760/cma.j.issn.0376-2491.2013.18.014.
  • Relative Articles

    [1]Jie LU, Dingchun LI, Ye LIU, Linna YUAN, Zhiwen DUAN, Wu LI. Clinical efficacy of low-dose plasma exchange combined with double plasma molecular absorption system/hemoperfusion in treatment of acute-on-chronic liver failure[J]. Journal of Clinical Hepatology, 2022, 38(11): 2526-2531. doi: 10.3969/j.issn.1001-5256.2022.11.017
    [2]Wu YiChen, Yao HongYu, Wang KaiLi, Jiang QiYu, Liu Chang, Xing HanQian, Liu SuXia, You ShaoLi, Zhao Jun. Effect of plasma exchange on bioactivity of peripheral blood CD34+ cells in patients with acute-on-chronic (subacute) liver failure[J]. Journal of Clinical Hepatology, 2018, 34(11): 2383-2387. doi: 10.3969/j.issn.1001-5256.2018.11.023
    [3]Li Shuang, Chen Yu. Coping with shortage of plasma-The new therapeutic pattern of non-bioartificial liver[J]. Journal of Clinical Hepatology, 2017, 33(9): 1687-1692. doi: 10.3969/j.issn.1001-5256.2017.09.012
    [4]Hou HuanRong, Shang Jia, Kang Yi, Li YuKui, Ceng YanLi, Ding GangQiang, Mao ZhongShan, Xiao ErHui. Clinical effect of plasma exchange combined with hemofiltration in patients with subacute liver failure induced by antitubercular agents[J]. Journal of Clinical Hepatology, 2016, 32(2): 342-346. doi: 10.3969/j.issn.1001-5256.2016.02.030
    [5]Wang QingHai, Tian Yi. Clinical efficacy of modulation of intestinal microecology and plasmapheresis for preventing and treating multiple organ failure in patients with severe hepatitis[J]. Journal of Clinical Hepatology, 2015, 31(9): 1426-1429. doi: 10.3969/j.issn.1001-5256.2015.09.015
    [6]Yu BingXue, Wu JianLin, Wu JiZhou, Wang ZunFu. Effect of non-bioartificial liver support system on serum manganese levels in patients with hepatic encephalopathy[J]. Journal of Clinical Hepatology, 2015, 31(8): 1311-1313. doi: 10.3969/j.issn.1001-5256.2015.08.031
    [7]Zhang LiangJie, Chen HuiJuan, Zhao ShouSong. Effects of artificial liver plasma exchange on cytokines in patients with liver failure[J]. Journal of Clinical Hepatology, 2015, 31(4): 578-581. doi: 10.3969/j.issn.1001-5256.2015.04.024
    [8]Wang Xian, Wang ShaoYang, Huang DeDong, Chen Jian, Chen DeLiang. Analysis of short-term prognostic factors in patients with HBV-related acute-on-chronic liver failure treated with artificial liver support system[J]. Journal of Clinical Hepatology, 2014, 30(4): 367-369. doi: 10.3969/j.issn.1001-5256.2014.04.020
    [9]Wu ShaoHong, Gan JianHe, Huang XiaoPing, Lin Hua, Lu NianFang, Wu JiangQuan, Zheng RuiQiang. Clinical effect of albumin dialysis combined with plasma perfusion in treatment of liver failure[J]. Journal of Clinical Hepatology, 2014, 30(5): 434-437. doi: 10.3969/j.issn.1001-5256.2014.05.013
    [10]Zhang Lin, Zhao ShouSong. Clinical efficacy of plasma exchange therapy in treatment of liver failure[J]. Journal of Clinical Hepatology, 2014, 30(10): 1015-1019. doi: 10.3969/j.issn.1001-5256.2014.10.010
    [11]Hu QiJiang, Jiang YingAn. Evaluation of the therapeutic efficacy of lamivudine combined with plasma exchange for treating acute-on-chronic hepatitis B liver failure [J]. Journal of Clinical Hepatology, 2013, 29(2): 107-109.
    [12]Zhou Jian, Wan Hong. Relationship between changes in serum cytokine levels after artificial liver therapy and clinical prognosis in patients with liver failure[J]. Journal of Clinical Hepatology, 2013, 29(7): 535-537. doi: 1001-5256 (2013) 07-0535-03
    [13]Zhang AiMin, You ShaoLi, Wan ZhiHong, Rong YiHui, Zhu Bing, Zang Hong, Xin ShaoJie. Combination therapy of plasma perfusion, plasma exchange, and entecavir in patients with hepatitis B acute-on-chronic liver failure[J]. Journal of Clinical Hepatology, 2012, 28(10): 744-747.
    [14]Liao JinMao, Li ZhuoRi, Hu XiaoXuan. The therapeutic effect of plasma exchange therapy in patients with severe hepatitis[J]. Journal of Clinical Hepatology, 2012, 28(4): 302-304.
    [15]Zhang WenHua, Jia WenLing, Zhou ZiYing, Tang HaiTao, Wang FengMei. Investigation on the method and safety of the non-heparinized plasma exchange therapy in treating patients with hepatic failure[J]. Journal of Clinical Hepatology, 2012, 28(1): 50-52.
    [18]Gao QingWei, Hu MeiTing, Yuan DeSheng, Wang Yong, Li BenKe, Han Guang, Wang RuGang, Sun WeiXiang. Analysis of influence factor and efficacy of plasma exchange therapy for chronic severe hepatitis B[J]. Journal of Clinical Hepatology, 2007, 23(5): 349-351.
  • Cited by

    Periodical cited type(30)

    1. 邹暾,龙文兴,周定中,周忠威,彭俊. 原发性肝癌采用肝动脉化疗栓塞术联合RFA的疗效及对血清miR-202、FHIT和P16蛋白水平的影响. 湘南学院学报(医学版). 2024(01): 27-29+78 .
    2. 余令兵. TACE中灌注吡柔比星治疗原发性肝癌的临床疗效及对免疫功能、血清肿瘤标志物水平的影响. 中国卫生工程学. 2024(02): 238-240+243 .
    3. 王娟,田宁,刘超,张山燕,周远. 肝动脉化疗栓塞联合靶向药物及免疫检查点抑制剂治疗中晚期肝癌的效果及对患者生存时间的影响. 大医生. 2024(07): 36-39 .
    4. 胡迎超. 血清甲胎蛋白和巨噬细胞移动抑制因子水平与原发性肝癌肝动脉化疗栓塞术患者预后的关系. 慢性病学杂志. 2023(01): 116-118 .
    5. 周菲菲,黄荣,蒋军,毛晓帆. 平均血小板体积/淋巴细胞比值对原发性肝癌SBRT治疗预后的评估价值. 西部医学. 2023(04): 563-567 .
    6. 何翠瑛,苏贞栋,陈燕红,周林荣,杨宇,姚清深. 阿帕替尼联合TACE治疗原发性肝癌复发生存的影响因素分析. 中西医结合肝病杂志. 2023(04): 298-302 .
    7. 张栋华,宋爱军,胡海军,刘朝阳. 经导管动脉化疗栓塞联合射频消融术治疗原发性肝癌患者的临床疗效. 癌症进展. 2023(08): 858-861 .
    8. 王如芹,高振东,高宗毅. 影响立体定向放射治疗原发性肝癌效果的相关因素分析. 中国基层医药. 2022(02): 285-290 .
    9. 刘爽. 基于聚焦解决模式的放松训练干预在肝癌射频消融术围术期护理中的应用效果评估. 黑龙江医学. 2022(01): 76-78 .
    10. 兰海涛,黄真婷,王小星. 超选择性肝动脉化疗栓塞术联合阿帕替尼对中晚期原发性肝癌患者血清MMP表达的影响. 数理医药学杂志. 2022(04): 597-599 .
    11. 张雪婷,周祖邦,薛亚娥,张明华,杜学晴. TACE联合热消融与单独TACE治疗结直肠癌肝转移疗效:Meta分析. 中国介入影像与治疗学. 2022(05): 278-283 .
    12. 杜炜玮,段铮,胡斌. 经皮RFA治疗原发性肝癌的效果及对血清TGF-β1、EGR2水平的影响. 分子诊断与治疗杂志. 2022(04): 635-638 .
    13. 武文华,冯秦辉,蔡芝芳,贾晓黎,杨锐华,党双锁. 经导管动脉化疗栓塞术联合超声引导射频消融术治疗原发性肝癌对疗效及免疫功能的影响. 中国医师进修杂志. 2022(05): 459-464 .
    14. 王瑛,袁鹤立,赵利,张亚丽,马向明. 伴营养不良风险的原发性肝癌患者临床特征及预后因素分析. 中西医结合肝病杂志. 2022(06): 494-498 .
    15. 柯映平,叶绍光,卢舜彬. 肝动脉化疗栓塞术联合FOLFOX方案持续性动脉灌注化疗在巴塞罗那B期原发性肝癌患者中的应用效果. 中国当代医药. 2022(18): 73-76 .
    16. 张贻庆,崔贵医,杨磊,刘刚,冯世杰,王劲. 肝肿瘤切除术与射频消融术治疗原发性肝癌的疗效及其对血清AFP、CEA、CA125水平的影响. 实用癌症杂志. 2022(08): 1316-1319 .
    17. 孙玉,张洪海,袁春旺,龙江,郑加生,张永宏. C反应蛋白/白蛋白比值影响肝动脉栓塞联合微波消融治疗中期肝细胞癌的预后. 肝胆胰外科杂志. 2022(10): 587-592 .
    18. 郝晓光,李伟靖,朱丽娜,史博,艾宁,吴勇超,李智岗. 中晚期肝癌患者经导管化疗栓塞治疗后序贯射频消融手术治疗时机的选择. 介入放射学杂志. 2022(09): 908-912 .
    19. 章甜,贾思静,孙冬雪,龙奉玺,唐东昕,杨柱. 拉米夫定联合TACE治疗HBV相关性中晚期肝癌的Meta分析. 临床医学研究与实践. 2021(13): 36-41+47 .
    20. 付卫东,尚靖智. 肝动脉化疗栓塞术联合经皮射频消融术治疗中晚期肝癌的临床疗效评价. 吉林医学. 2021(05): 1095-1098 .
    21. 谷涛,于经瀛. 肝动脉化疗栓塞术治疗原发性进展性肝细胞癌新进展. 协和医学杂志. 2021(03): 380-385 .
    22. 刘人杰. 索拉菲尼治疗原发性肝癌的效果及对患者血清HSP90α、VEGF水平的影响. 中国医学创新. 2021(14): 15-19 .
    23. 高磊磊,秦帅鑫,陈威,候振国. TACE联合RFA治疗中期原发性肝癌的疗效及对患者血清GP73、AFP和AFP-L3水平的影响. 临床和实验医学杂志. 2021(13): 1388-1391 .
    24. 金文彪. 肝动脉化疗栓塞联合射频消融在原发性肝癌中的价值. 中国卫生标准管理. 2021(17): 48-51 .
    25. 范隼,钟鹏,巫兆国. 经肝动脉化疗栓塞联合同步射频消融术治疗肝癌的初步临床研究. 吉林医学. 2021(10): 2389-2390 .
    26. 曹昆昆,李晓伟,付志刚,翟健,曲增强,丁宁. 微波消融同步联合经导管动脉化疗栓塞治疗膈下肝细胞癌. 中国介入影像与治疗学. 2021(11): 659-662 .
    27. 卢毅,周任. 肝动脉化疗栓塞联合射频消融治疗原发性小肝癌的临床效果及对患者免疫功能的影响. 广西医学. 2021(18): 2161-2165 .
    28. 何勇. 肝动脉介入化疗栓塞术联合阿帕替尼在晚期肝癌中的应用. 临床医药实践. 2020(03): 181-183 .
    29. 徐蓉,华忠. 肝硬化并发原发性肝癌的流行病学特征、危险因素及相关预防干预对策研究. 中西医结合肝病杂志. 2020(04): 357-359+366 .
    30. 刘峥嵘,俞巍. 肝动脉化疗栓塞术和肝动脉栓塞术治疗肝细胞癌的疗效. 血管与腔内血管外科杂志. 2019(02): 139-143 .

    Other cited types(2)

  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Tables(2)

    Article Metrics

    Article views (926) PDF downloads(90) Cited by(32)
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return