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

留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

肝豆状核变性的治疗现状

周思敏 郭丽萍 蔡王锋 周璐 王邦茂

引用本文:
Citation:

肝豆状核变性的治疗现状

DOI: 10.3969/j.issn.1001-5256.2020.01.052
基金项目: 

国家自然科学基金地区基金项目(81860109); 

详细信息
  • 中图分类号: R575

Latest advances in the treatment of hepatolenticular degeneration

Research funding: 

 

  • 摘要:

    肝豆状核变性(HLD)是一种与铜代谢障碍有关的常染色体隐性遗传性肝病。13号染色体ATP7B基因突变导致铜离子跨膜转运出现障碍,进而导致过量的铜在肝脏、脑、角膜、肾脏、骨关节沉积(以肝脏和脑部的铜沉积为主)。早期诊断、早期治疗可以显著减少组织损害,改善患者预后。2008年美国肝病学会、2012年欧洲肝病学会分别发布了肝豆状核变性的诊治指南。在此基础上,汇总了国内外新近的研究进展,对肝豆状核变性的治疗做出了全面的综述。

     

  • [1] 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.
    [2] European Association for Study of Liver. EASL clinical practice guidelines:Wilson’s disease[J]. J Hepatol,2012,56(3):671-685.
    [3] KOZIC'DB,PETROVIC'I,SVETEL M,et al. Reversible lesions in the brain parenchyma in Wilson’s disease confirmed by magnetic resonance imaging:Earlier administration of chelating therapy can reduce the damage to the brain[J]. Neural Regen Res,2014,9(21):1912-1916.
    [4] TROCELLO JM,EL BALKHI S,WOIMANT F,et al. Relative exchangeable copper:A promising tool for family screening in Wilson disease[J]. Mov Disord,2014,29(4):558-562.
    [5] SCHAEFER M,GOTTHARDT DN,DIDION C,et al. Increased prevalence of subcutaneous lipomas in patients with Wilson disease[J]. J Clin Gastroenterol,2015,49(7):e61-e63.
    [6] RUSSELL K,GILLANDERS LK,ORR DW,et al. Dietary copper restriction in Wilson’s disease[J]. Eur J Clin Nutr,2018,72(3):326-331.
    [7] HEDERA P. Treatment of Wilson’s disease motor complications with deep brain stimulation[J]. Ann N Y Acad Sci,2014,1315:16-23.
    [8] LITWIN T,DZIEZ·YC K,KARLIN'SKI M,et al. Early neurological worsening in patients with Wilson’s disease[J]. J Neurol Sci,2015,355(1-2):162-167.
    [9] POUJOIS A,MIKOL J,WOIMANT F. Wilson disease:Brain pathology[J]. Handb Clin Neurol,2017,142:77-89.
    [10] SEESSLE J,GOTTHARDT DN,SCHFER M,et al. Concomitant immune-related events in Wilson disease:Implications for monitoring chelator therapy[J]. J Inherit Metab Dis,2016,39(1):125-130.
    [11] SINI M,SORBELLO O,SANNA F,et al. Histologic evolution and long-term outcome of Wilson’s disease:Results of a single-center experience[J]. Eur J Gastroenterol Hepatol,2013,25(1):111-117.
    [12] CHEN DB,FENG L,LIN XP,et al. Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice[J]. PLo S One,2012,7(5):e37709.
    [13] VIEIRA BARBOSA J,FRAGA M,SALDARRIAGA J,et al. Hepatic manifestations of Wilson’s disease:12-year experience in a Swiss tertiary referral centre[J]. Swiss Med Wkly,2018,148:w14699.
    [14] ALA A,ALIU E,SCHILSKY ML. Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson disease[J]. Dig Dis Sci,2015,60(5):1433-1439.
    [15] BREWER GJ,ASKARI F,LORINCZ MT,et al. Treatment of Wilson disease with ammonium tetrathiomolybdate:IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease[J]. Arch Neurol,2006,63(4):521-527.
    [16] VADASZ Z,KESSLER O,AKIRI G,et al. Abnormal deposition of collagen around hepatocytes in Wilson’s disease is associated with hepatocyte specific expression of lysyl oxidase and lysyl oxidase like protein-2[J]. J Hepatol,2005,43(3):499-507.
    [17] WEISS KH,THURIK F,GOTTHARDT DN,et al. Efficacy and safety of oral chelators in treatment of patients with Wilson disease[J]. Clin Gastroenterol Hepatol,2013,11(8):1028-1035. e1-e2.
    [18] WEISS KH,STREMMEL W. Clinical considerations for an effective medical therapy in Wilson’s disease[J]. Ann N Y Acad Sci,2014,1315:81-85.
    [19] RUPP C,STREMMEL W,WEISS KH. Novel perspectives on Wilson disease treatment[J]. Handb Clin Neurol,2017,142:225-230.
    [20] WEISS KH,ASKARI FK,CZLONKOWSKA A,et al. Bis-choline tetrathiomolybdate in patients with Wilson’s disease:An open-label,multicentre,phase 2 study[J]. Lancet Gastroenterol Hepatol,2017,2(12):869-876.
    [21] DALVI A,PADMANABAN M. Wilson’s disease:Etiology,diagnosis,and treatment[J]. Dis Mon,2014,60(9):450-459.
    [22] RANUCCI G,SOCHA P,IORIO R. Wilson disease:What is still unclear in pediatric patients?[J]. Clin Res Hepatol Gastroenterol,2014,38(3):268-272.
    [23] WEISS KH,GOTTHARDT DN,KLEMM D,et al. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease[J]. Gastroenterology,2011,140(4):1189-1198. e1.
    [24] CZONKOWSKA A,LITWIN T,KARLIN'SKI M,et al. D-penicillamine versus zinc sulfate as first-line therapy for Wilson’s disease[J]. Eur J Neurol,2014,21(4):599-606.
    [25] ABUDUXIKUER K,WANG JS. Zinc mono-therapy in presymptomatic Chinese children with Wilson disease:A single center,retrospective study[J]. PLo S One,2014,9(1):e86168.
    [26] EDA K,MIZUOCHI T,IWAMA I,et al. Zinc monotherapy for young children with presymptomatic Wilson disease:A multicenter study in Japan[J]. J Gastroenterol Hepatol,2018,33(1):264-269.
    [27] ASKARI FK,GREENSON J,DICK RD,et al. Treatment of Wilson’s disease with zinc. XVIII. Initial treatment of the hepatic decompensation presentation with trientine and zinc[J]. J Lab Clin Med,2003,142(6):385-390.
    [28] HOOGENRAAD TU. Paradigm shift in treatment of Wilson’s disease:Zinc therapy now treatment of choice[J]. Brain Dev,2006,28(3):141-146.
    [29] POUJOIS A,DEVEDJIAN JC,MOREAU C,et al. Bioavailable trace metals in neurological diseases[J]. Curr Treat Options Neurol,2016,18(10):46.
    [30] TEODORO T,NEUTEL D,LOBO P,et al. Recovery after copper-deficiency myeloneuropathy in Wilson’s disease[J]. J Neurol,2013,260(7):1917-1918.
    [31] CHEN JC,CHUANG CH,WANG JD,et al. Combination therapy using chelating agent and zinc for Wilson’s disease[J].J Med Biol Eng,2015,35(6):697-708.
    [32] ANNU A,MOHIT B. Importance of adequate decoppering in Wilson’s disease[J]. Mov Disord,2014,29(8):1089.
    [33] FOX AN,SCHILSKY M. Once daily trientine for maintenance therapy of Wilson disease[J]. Am J Gastroenterol,2008,103(2):494-495.
    [34] BRUHA R,MARECEK Z,POSPISILOVA L,et al. Long-term follow-up of Wilson disease:Natural history,treatment,mutations analysis and phenotypic correlation[J]. Liver Int,2011,31(1):83-91.
    [35] YONETANI L,WALSHE JM. Surviving Wilson’s disease[J].Clin Med(Lond),2001,1(1):72-74.
    [36] EL-KARAKSY H,FAHMY M,EL-RAZIKY MS,et al. A clinical study of Wilson’s disease:The experience of a single Egyptian Paediatric Hepatology Unit[J]. Arab J Gastroenterol,2011,12(3):125-130.
    [37] ARNON R,ANNUNZIATO R,SCHILSKY M,et al. Liver transplantation for children with Wilson disease:Comparison of outcomes between children and adults[J]. Clin Transplant,2011,25(1):e52-e60.
    [38] EISENBACH C,SIEG O,STREMMEL W,et al. Diagnostic criteria for acute liver failure due to Wilson disease[J]. World J Gastroenterol,2007,13(11):1711-1714.
    [39] SCHILSKY ML. Liver transplantation for Wilson’s disease[J].Ann N Y Acad Sci,2014,1315:45-49.
    [40] YAGCI MA,TARDU A,KARAGUL S,et al. Influence of liver transplantation on neuropsychiatric manifestations of Wilson disease[J]. Transplant Proc,2015,47(5):1469-1473.
    [41] LAURENCIN C,BRUNET AS,DUMORTIER J,et al. Liver transplantation in Wilson’s disease with neurological impairment:Evaluation in 4 patients[J]. Eur Neurol,2017,77(1-2):5-15.
    [42] SUTCLIFFE RP,MAGUIRE DD,MUIESAN P,et al. Liver transplantation for Wilson’s disease:Long-term results and quality-of-life assessment[J]. Transplantation,2003,75(7):1003-1006.
    [43] BURKHEAD JL,GRAY LW,LUTSENKO S. Systems biology approach to Wilson’s disease[J]. Biometals,2011,24(3):455-466.
    [44] MURILLO O,LUQUI DM,GAZQUEZ C,et al. Long-term metabolic correction of Wilson’s disease in a murine model by gene therapy[J]. J Hepatol,2016,64(2):419-426.
    [45] ROYBAL JL,ENDO M,RADU A,et al. Early gestational gene transfer with targeted ATP7B expression in the liver improves phenotype in a murine model of Wilson’s disease[J]. Gene Ther,2012,19(11):1085-1094.
    [46] HAMILTON JP,KOGANTI L,MUCHENDITSI A,et al. Activation of liver X receptor/retinoid X receptor pathway ameliorates liver disease in Atp7B(-/-)(Wilson disease)mice[J].Hepatology,2016,63(6):1828-1841.
    [47] CONCILLI M,IACOBACCI S,CHESI G,et al. A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease[J]. Metallomics,2016,8(9):920-930.
    [48] FILIPPI C,DHAWAN A. Current status of human hepatocyte transplantation and its potential for Wilson’s disease[J]. Ann N Y Acad Sci,2014,1315:50-55.
    [49] GUPTA S. Cell therapy to remove excess copper in Wilson’s disease[J]. Ann N Y Acad Sci,2014,1315:70-80.
    [50] MALHI H,IRANI AN,VOLENBERG I,et al. Early cell transplantation in LEC rats modeling Wilson’s disease eliminates hepatic copper with reversal of liver disease[J]. Gastroenterology,2002,122(2):438-447.
    [51] RODO M,CZONKOWSKA A,PULAWSKA M,et al. The level of serum lipids,vitamin E and low density lipoprotein oxidation in Wilson’s disease patients[J]. Eur J Neurol,2000,7(5):491-494.
    [52] von HERBAY A,de GROOT H,HEGI U,et al. Low vitamin E content in plasma of patients with alcoholic liver disease,hemochromatosis and Wilson’s disease[J]. J Hepatol,1994,20(1):41-46.
    [53] SOKOL RJ,MCKIM JM Jr,DEVEREAUX MW. alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes[J]. Pediatr Res,1996,39(2):259-263.
    [54] van DEN BERGHE PV,STAPELBROEK JM,KRIEGER E,et al.Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones4-phenylbutyrate and curcumin[J]. Hepatology,2009,50(6):1783-1795.
    [55] TIAN Y,GONG GZ,YANG X,et al. Diagnosis and management of fulminant Wilson’s disease:A single center’s experience[J]. World J Pediatr,2016,12(2):209-214.
    [56] CHIU A,TSOI NS,FAN ST. Use of the molecular adsorbents recirculating system as a treatment for acute decompensated Wilson disease[J]. Liver Transpl,2008,14(10):1512-1516.
    [57] DU YL,WU Z. Hepatolenticular degeneration involving thalamus and brainstem:A case report[J]. Clin J Med Offic,2019,47(2):220.(in Chinese)杜育霖,吴哲.肝豆状核变性累及丘脑与脑干1例[J].临床军医杂志,2019,47(2):220.
    [58] ZHANG DF,WANG YS,TENG JF. Clinical research about liver function of hepatolenticular degeneration combined liver fibrosis by transplantation of bone marrow stem cells[J]. Chin J Immunol,2016,32(2):193-196,200.(in Chinese)张东锋,王煜姝,滕军放.骨髓间充质干细胞对肝豆状核变性合并肝纤维化肝功能的临床研究[J].中国免疫学杂志,2016,32(2):193-196,200.
    [59] GOYAL MK,SINHA S,PATIL SA,et al. Do cytokines have any role in Wilson’s disease?[J]. Clin Exp Immunol,2008,154(1):74-79.
  • 加载中
计量
  • 文章访问数:  1118
  • HTML全文浏览量:  36
  • PDF下载量:  295
  • 被引次数: 0
出版历程
  • 出版日期:  2020-01-20
  • 分享
  • 用微信扫码二维码

    分享至好友和朋友圈

目录

    /

    返回文章
    返回