中文｜English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 38 Issue 8
Aug.  2022
Turn off MathJax
Article Contents
Article Navigation >  Journal of Clinical Hepatology  > 2022  >  38(8): 1843-1846

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

DOI: 10.3969/j.issn.1001-5256.2022.08.023

  • Department of Traditional and Western Medical Hepatology, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, China

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
    Abstract
  •   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.

     

    • FullText(HTML)
  • loading
    • References(24)
  • [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
    • Supplements(0)
    • Cited By
  • 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)

    Get Citation
    PDF
    XML

    Article Metrics

    Article views (559) PDF downloads(75) Cited by()
    Proportional views
    Related
        

    The first journal specializing in hepatobiliary and pancreatic diseases in China

    Supervisor：Ministry of Education of the People's Republic of China

    Sponsor：Jilin University

    Academic Support: Chinese Society of Hepatology，Chinese Medical Association

    Address: 461 Xinjiang Road, Changchun

    Submit：0431-88782044

    Peer review：0431-88783542

    Email：lcgdb@vip.163.com

    About Journal

    Submission Guideline

    Journal Online

    Hepatobiliary College

    Guidelines

    YesterdayIP[]YesterdayPV[]TodayIP[]TodayPV[]Online[]

    Website Design © 2020 Editorial Board of Journal of Clinical Hepatology 吉ICP备10000617号-1 Supported by: Beijing Renhe Information Technology Co. Ltd  

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return