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image of Chinese Multidisciplinary Expert Consensus on Orphan/Anticopper Drugs and Other Non-drug Management of Hepatolenticular Degeneration

Abstract

Background

This study aims to guide the diagnosis and treatment of hepatolenticular degeneration (also named Wilson's disease, WD) and aid multidisciplinary clinicians in making reasonable and personalized treatment regimens.

Objectives

The authors aim to establish a systemic structure for Chinese Multidisciplinary Expert Consensus on Diagnosis and Treatment of Hepatolenticular Degeneration.

Methods

We collaborated with experts from relevant branches of the Chinese Medical Association and multiple disciplines, along with statistical experts, to formulate this consensus. It is based on advancements in basic and clinical research on Wilson's disease, both domestically and internationally.

Results

It mainly consists of clinical manifestations, diagnosis, differential diagnosis, management, and prognosis in the context of Multi-Department treatment (MDT) in China.

Conclusion

This Chinese consensus incorporates four decades of institutional experience with thousands of Chinese Wilson’s disease (WD) inpatients, as well as decades of international inpatient cases from East to West. It is hoped that this consensus will garner broader attention from clinicians worldwide.

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2025-04-07
2025-09-03
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References

  1. Alkhouri N. Gonzalez-Peralta R.P. Medici V. Wilson disease: A summary of the updated AASLD Practice Guidance. Hepatol. Commun. 2023 7 6 e0150 10.1097/HC9.0000000000000150 37184530
    [Google Scholar]
  2. Shribman S. Marjot T. Sharif A. Vimalesvaran S. Ala A. Alexander G. Dhawan A. Dooley J. Gillett G.T. Kelly D. McNeill A. Warner T.T. Wheater V. Griffiths W. Bandmann O. Investigation and management of Wilson’s disease: A practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol. Hepatol. 2022 7 6 560 575 10.1016/S2468‑1253(22)00004‑8 35429442
    [Google Scholar]
  3. Wallace D.F. Dooley J.S. ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. Hum. Genet. 2020 139 8 1065 1075 10.1007/s00439‑020‑02161‑3 32248359
    [Google Scholar]
  4. Gao J. Brackley S. Mann J.P. The global prevalence of Wilson disease from next-generation sequencing data. Genet. Med. 2019 21 5 1155 1163 10.1038/s41436‑018‑0309‑9
    [Google Scholar]
  5. Linder M.C. Apoceruloplasmin: Abundance, detection, formation, and metabolism. Biomedicines 2021 9 3 233 10.3390/biomedicines9030233 33669134
    [Google Scholar]
  6. Mordaunt C.E. Kieffer D.A. Shibata N.M. Członkowska A. Litwin T. Weiss K.H. Zhu Y. Bowlus C.L. Sarkar S. Cooper S. Wan Y.J.Y. Ali M.R. LaSalle J.M. Medici V. Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers. Epigenet. Chro. 2019 12 1 10 10.1186/s13072‑019‑0255‑z 30709419
    [Google Scholar]
  7. Medici V. Shibata N.M. Kharbanda K.K. LaSalle J.M. Woods R. Liu S. Engelberg J.A. Devaraj S. Török N.J. Jiang J.X. Havel P.J. Lönnerdal B. Kim K. Halsted C.H. Wilson’s disease: Changes in methionine metabolism and inflammation affect global DNA methylation in early liver disease. Hepatology 2013 57 2 555 565 10.1002/hep.26047 22945834
    [Google Scholar]
  8. Patil M. Sheth K.A. Krishnamurthy A.C. Devarbhavi H. A review and current perspective on Wilson disease. J. Clin. Exp. Hepatol. 2013 3 4 321 336 10.1016/j.jceh.2013.06.002 25755520
    [Google Scholar]
  9. Jacobs D.A. Markowitz C.E. Liebeskind D.S. Galetta S.L. The “double panda sign” in Wilson’s disease. Neurology 2003 61 7 969 10.1212/01.WNL.0000085871.98174.4E 14557570
    [Google Scholar]
  10. Carpenter T.O. Carnes D.L. Jr Anast C.S. Hypoparathyroidism in Wilson’s disease. N. Engl. J. Med. 1983 309 15 873 877 10.1056/NEJM198310133091501 6888480
    [Google Scholar]
  11. Walshe J.M. Pregnancy in Wilson’s disease. Q. J. Med. 1977 46 181 73 83 866569
    [Google Scholar]
  12. Socha P. Janczyk W. Dhawan A. Baumann U. D’Antiga L. Tanner S. Iorio R. Vajro P. Houwen R. Fischler B. Dezsofi A. Hadzic N. Hierro L. Jahnel J. McLin V. Nobili V. Smets F. Verkade H.J. Debray D. Wilson’s disease in children. J. Pediatr. Gastroenterol. Nutr. 2018 66 2 334 344 10.1097/MPG.0000000000001787 29341979
    [Google Scholar]
  13. Merle U. Schaefer M. Ferenci P. Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut 2007 56 1 115 120 10.1136/gut.2005.087262 16709660
    [Google Scholar]
  14. Hlubocká Z. Mareček Z. Linhart A. Kejřová E. Pospíšilová L. Martásek P. Aschermann M. Cardiac involvement in Wilson disease. J. Inherit. Metab. Dis. 2002 25 4 269 277 10.1023/A:1016546223327 12227457
    [Google Scholar]
  15. Grandis D.J. Nah G. Whitman I.R. Vittinghoff E. Dewland T.A. Olgin J.E. Marcus G.M. Wilson’s disease and cardiac myopathy. Am. J. Cardiol. 2017 120 11 2056 2060 10.1016/j.amjcard.2017.08.025 28947309
    [Google Scholar]
  16. Ferenci P. Członkowska A. Merle U. Ferenc S. Gromadzka G. Yurdaydin C. Vogel W. Bruha R. Schmidt H.T. Stremmel W. Late-onset Wilson’s disease. Gastroenterology 2007 132 4 1294 1298 10.1053/j.gastro.2007.02.057 17433323
    [Google Scholar]
  17. Ala A. Borjigin J. Rochwarger A. Schilsky M. Wilson disease in septuagenarian siblings. Hepatology 2005 41 3 668 670 10.1002/hep.20601 15723329
    [Google Scholar]
  18. Schilsky M.L. Roberts E.A. Bronstein J.M. Dhawan A. Hamilton J.P. Rivard A.M. Washington M.K. Weiss K.H. Zimbrean P.C. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology 2022 ••• 1 6 10.1002/hep.32801 36151586
    [Google Scholar]
  19. Svetel M. Potrebić A. Pekmezović T. Tomić A. Kresojević N. Ješić R. Dragašević N. Kostić V.S. Neuropsychiatric aspects of treated Wilson’s disease. Parkinsonism Relat. Disord. 2009 15 10 772 775 10.1016/j.parkreldis.2009.01.010 19559640
    [Google Scholar]
  20. Akil M. Brewer G.J. Psychiatric and behavioral abnormalities in Wilson’s disease. Adv. Neurol. 1995 65 171 178 7872138
    [Google Scholar]
  21. Dening T.R. Berrios G.E. Wilson’s Disease. Arch. Gen. Psychiatry 1989 46 12 1126 1134 10.1001/archpsyc.1989.01810120068011 2589927
    [Google Scholar]
  22. Yuan X.Z. Yang R.M. Wang X.P. Management perspective of wilsons disease: Early diagnosis and individualized therapy. Curr. Neuropharmacol. 2021 19 4 465 485 10.2174/18756190MTA2tMjQDy 32351182
    [Google Scholar]
  23. Seniόw J. Bak T. Gajda J. Poniatowska R. Czlonkowska A. Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson’s disease. Mov. Disord. 2002 17 5 1077 1083 10.1002/mds.10195 12360563
    [Google Scholar]
  24. Hegde S. Sinha S. Rao S. Taly A. Vasudev M.K. Cognitive profile and structural findings in Wilson′s disease: A neuropsychological and MRI-based study. Neurol. India 2010 58 5 708 713 10.4103/0028‑3886.72172 21045492
    [Google Scholar]
  25. Frota N.A.F. Barbosa E.R. Porto C.S. Lucato L.T. Ono C.R. Buchpiguel C.A. Caramelli P. Cognitive impairment and magnetic resonance imaging correlations in Wilson’s disease. Acta Neurol. Scand. 2013 127 6 391 398 10.1111/ane.12037 23215772
    [Google Scholar]
  26. Senda M. Terada S. Takenoshita S. Diagnostic utility of the Addenbrooke’s Cognitive Examination - III (ACE-III), Mini-ACE, mini-mental state examination, montreal cognitive assessment, and hasegawa dementia scale-revised for detecting mild cognitive impairment and dementia. Psychogeriatrics 2020 20 2 156 162 10.1111/psyg.12480
    [Google Scholar]
  27. European Association for Study of Liver Wilson’s disease J. Hepatol. 2012 56 3 671 685 10.1016/j.jhep.2011.11.007 22340672
    [Google Scholar]
  28. Reuben A. Tillman H. Fontana R.J. Davern T. McGuire B. Stravitz R.T. Durkalski V. Larson A.M. Liou I. Fix O. Schilsky M. McCashland T. Hay J.E. Murray N. Shaikh O.S. Ganger D. Zaman A. Han S.B. Chung R.T. Smith A. Brown R. Crippin J. Harrison M.E. Koch D. Munoz S. Reddy K.R. Rossaro L. Satyanarayana R. Hassanein T. Hanje A.J. Olson J. Subramanian R. Karvellas C. Hameed B. Sherker A.H. Robuck P. Lee W.M. Outcomes in adults with acute liver failure between 1998 and 2013. Ann. Intern. Med. 2016 164 11 724 732 10.7326/M15‑2211 27043883
    [Google Scholar]
  29. Schilsky M.L. Wilson Disease. Clin. Liver Dis. 2017 21 4 755 767 10.1016/j.cld.2017.06.011 28987261
    [Google Scholar]
  30. Schilsky M.L. Scheinberg H.I. Sternlieb I. Liver transplantation for Wilson’s disease: Indications and outcome. Hepatology 1994 19 3 583 587 10.1002/hep.1840190307 8119682
    [Google Scholar]
  31. Ferenci P. Stremmel W. Członkowska A. Szalay F. Viveiros A. Stättermayer A.F. Bruha R. Houwen R. Pop T.L. Stauber R. Gschwantler M. Pfeiffenberger J. Yurdaydin C. Aigner E. Steindl-Munda P. Dienes H.P. Zoller H. Weiss K.H. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of wilson disease. Hepatology 2019 69 4 1464 1476 10.1002/hep.30280 30232804
    [Google Scholar]
  32. Pandey N. John S. Kayser-Fleischer Ring. In: Disclosure: Savio John declares no relevant financial relationships with ineligible companies; StatPearls: Treasure Island (FL), 2023
    [Google Scholar]
  33. Langwińska-Wośko E. Litwin T. Dzieżyc K. Karlinski M. Członkowska A. Optical coherence tomography as a marker of neurodegeneration in patients with Wilson’s disease. Acta Neurol. Belg. 2017 117 4 867 871 10.1007/s13760‑017‑0788‑5 28488258
    [Google Scholar]
  34. Factor S.M. Cho S. Sternlieb I. Scheinberg I.H. Goldfischer S. The cardiomyopathy of Wilson’s disease. Virchows Arch. A Pathol. Anat. Histol. 1982 397 3 301 311 10.1007/BF00496571 7157667
    [Google Scholar]
  35. Tarnacka B. Rodo M. Cichy S. Członkowska A. Procreation ability in Wilson’s disease. Acta Neurol. Scand. 2000 101 6 395 398 10.1034/j.1600‑0404.2000.90140a.x 10877157
    [Google Scholar]
  36. Kaushansky A. Frydman M. Kaufman H. Homburg R. Endocrine studies of the ovulatory disturbances in Wilson’s disease (hepatolenticular degeneration). Fertil. Steril. 1987 47 2 270 273 10.1016/S0015‑0282(16)50004‑1 3817173
    [Google Scholar]
  37. Kelly J. Raizman J.E. Bevilacqua V. Complex reference value distributions and partitioned reference intervals across the pediatric age range for 14 specialized biochemical markers in the CALIPER cohort of healthy community children and adolescents. Clin. Chim. Acta 2015 450 196 202 10.1016/j.cca.2015.08.020
    [Google Scholar]
  38. Merle U. Eisenbach C. Weiss K.H. Tuma S. Stremmel W. Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson’s disease. J. Hepatol. 2009 51 5 925 930 10.1016/j.jhep.2009.06.022 19720421
    [Google Scholar]
  39. Ryan A. Nevitt S.J. Tuohy O. Cook P. Biomarkers for diagnosis of Wilson’s disease. Cochrane Libr. 2019 2019 11 CD012267 10.1002/14651858.CD012267.pub2 31743430
    [Google Scholar]
  40. Burrows S. Pekala B. Serum copper and ceruloplasmin in pregnancy. Am. J. Obstet. Gynecol. 1971 109 6 907 909 10.1016/0002‑9378(71)90805‑2 4994775
    [Google Scholar]
  41. Mak C.M. Lam C.W. Tam S. Diagnostic accuracy of serum ceruloplasmin in Wilson disease: Determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Clin. Chem. 2008 54 8 1356 1362 10.1373/clinchem.2008.103432 18556333
    [Google Scholar]
  42. Marchi G. Busti F. Zidanes L.A. Castagna A. Girelli D. Aceruloplasminemia: A severe neurodegenerative disorder deserving an early diagnosis. Front. Neurosci. 2019 13 325 10.3389/fnins.2019.00325 31024241
    [Google Scholar]
  43. Cauza E. Maier-Dobersberger T. Polli C. Kaserer K. Kramer L. Ferenci P. Screening for Wilson’s disease in patients with liver diseases by serum ceruloplasmin. J. Hepatol. 1997 27 2 358 362 10.1016/S0168‑8278(97)80182‑1 9288611
    [Google Scholar]
  44. Nicastro E. Ranucci G. Vajro P. Vegnente A. Iorio R. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010 52 6 1948 1956 10.1002/hep.23910 20967755
    [Google Scholar]
  45. Sezer O.B. Perk P. Hosnut F.O. Is it necessary to re-evaluate diagnostic criteria for Wilson disease in children? Turk. J. Gastroenterol. 2014 25 6 690 695 10.5152/tjg.2014.7787
    [Google Scholar]
  46. Xu Z.X. Zhou Y.Y. Wu R. Zhao Y.J. Wang X.P. Brain iron deposition and whole-exome sequencing of non-Wilson’s disease hypoceruloplasminemia in a family. J. Neurorestoratology 2023 11 1 100027 10.1016/j.jnrt.2022.100027
    [Google Scholar]
  47. Duncan A. Yacoubian C. Beetham R. Catchpole A. Bullock D. The role of calculated non-caeruloplasmin-bound copper in Wilson’s disease. Ann. Clin. Biochem. 2017 54 6 649 654 10.1177/0004563216676843 27742851
    [Google Scholar]
  48. Poujois A. Trocello J.M. Djebrani-Oussedik N. Poupon J. Collet C. Girardot-Tinant N. Sobesky R. Habès D. Debray D. Vanlemmens C. Fluchère F. Ory-Magne F. Labreuche J. Preda C. Woimant F. Exchangeable copper: A reflection of the neurological severity in W ilson’s disease. Eur. J. Neurol. 2017 24 1 154 160 10.1111/ene.13171 27739240
    [Google Scholar]
  49. Lyon T.D.B. Fell G.S. Gaffney D. McGaw B.A. Russell R.I. Park R.H.R. Beattie A.D. Curry G. Crofton R.J. Gunn I. Sturniolo G.S. D’inca R. Patriarca M. Use of a stable copper isotope (65Cu) in the differential diagnosis of Wilson’s disease. Clin. Sci. (Lond.) 1995 88 6 727 732 10.1042/cs0880727 7634759
    [Google Scholar]
  50. Czlonkowska A. Rodo M. Wierzchowska-Ciok A. Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. Liver Int. 2018 38 10 1860 1866 10.1111/liv.13715
    [Google Scholar]
  51. Coffey A.J. Durkie M. Hague S. McLay K. Emmerson J. Lo C. Klaffke S. Joyce C.J. Dhawan A. Hadzic N. Mieli-Vergani G. Kirk R. Allen E.K. Nicholl D. Wong S. Griffiths W. Smithson S. Giffin N. Taha A. Connolly S. Gillett G.T. Tanner S. Bonham J. Sharrack B. Palotie A. Rattray M. Dalton A. Bandmann O. A genetic study of Wilson’s disease in the United Kingdom. Brain 2013 136 5 1476 1487 10.1093/brain/awt035 23518715
    [Google Scholar]
  52. Kluska A. Kulecka M. Litwin T. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson’s disease phenotype. Liver Int. 2019 39 1 177 186 10.1111/liv.13967
    [Google Scholar]
  53. Przybyłkowski A. Gromadzka G. Chabik G. Wierzchowska A. Litwin T. Członkowska A. Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson’s disease. Funct. Neurol. 2014 29 1 23 29 25014046
    [Google Scholar]
  54. Moores A. Fox S. Lang A. Wilson disease: Canadian perspectives on presentation and outcomes from an adult ambulatory setting. Can. J. Gastroenterol. 2012 26 6 333 339 10.1155/2012/123431
    [Google Scholar]
  55. Stremmel W. Meyerrose K.W. Niederau C. Hefter H. Kreuzpaintner G. Strohmeyer G. Wilson disease: Clinical presentation, treatment, and survival. Ann. Intern. Med. 1991 115 9 720 726 10.7326/0003‑4819‑115‑9‑720 1929042
    [Google Scholar]
  56. Walshe J.M. Hepatic Wilson’s disease: Initial treatment and long-term management. Curr. Treat. Options Gastroenterol. 2005 8 6 467 472 10.1007/s11938‑005‑0033‑9 16313864
    [Google Scholar]
  57. Ferenci P. Steindl-Munda P. Vogel W. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s Disease. Clin. Gastroenterol. Hepatol. 2005 3 8 811 818 10.1016/S1542‑3565(05)00181‑3
    [Google Scholar]
  58. Walshe J.M. The acute haemolytic syndrome in Wilson’s disease—a review of 22 patients. Int. J. Med. (Dubai) 2013 106 11 1003 1008 10.1093/qjmed/hct137
    [Google Scholar]
  59. Steindl P. Ferenci P. Dienes H.P. Grimm G. Pabinger I. Madl C. Dobersberger M.T. Herneth A. Dragosics B. Meryn S. Knoflach P. Granditsch G. Gangl A. Wilson’s disease in patients presenting with liver disease: A diagnostic challenge. Gastroenterology 1997 113 1 212 218 10.1016/S0016‑5085(97)70097‑0 9207280
    [Google Scholar]
  60. Bruha R. Marecek Z. Pospisilova L. Long-term follow-up of Wilson disease: Natural history, treatment, mutations analysis and phenotypic correlation. Liver Int. 2011 31 1 83 91 10.1111/j.1478‑3231.2010.02354.x
    [Google Scholar]
  61. Tauber J. Steinert R.F. Pseudo-kayser-fleischer ring of the cornea associated with non-wilsonian liver disease. a case report and literature review. Cornea 1993 12 1 74 77 10.1097/00003226‑199301000‑00013 8458236
    [Google Scholar]
  62. Williams E.J. Gleeson D. Burton J.L. Stephenson T.J. Kayser–Fleischer like rings in alcoholic liver disease. Eur. J. Gastroenterol. Hepatol. 2003 15 1 91 93 10.1097/00042737‑200301000‑00016 12544701
    [Google Scholar]
  63. Broniek-Kowalik K. Dzieżyc K. Litwin T. Członkowska A. Szaflik J.P. Anterior segment optical coherence tomography (AS ‐ OCT) as a new method of detecting copper deposits forming the Kayser–Fleischer ring in patients with Wilson disease. Acta Ophthalmol. 2019 97 5 e757 e760 10.1111/aos.14009 30635971
    [Google Scholar]
  64. Akhan O. Akpinar E. Karcaaltincaba M. Haliloglu M. Akata D. Karaosmanoglu A.D. Ozmen M. Imaging findings of liver involvement of Wilson’s disease. Eur. J. Radiol. 2009 69 1 147 155 10.1016/j.ejrad.2007.09.029 17981419
    [Google Scholar]
  65. Cançado E.L. Rocha M.S. Barbosa E.R. Scaff M. Cerri G.G. Magalhães A. Canelas H.M. Abdominal ultrasonography in hepatolenticular degeneration. A study of 33 patients. Arq. Neuropsiquiatr. 1987 45 2 131 136 10.1590/S0004‑282X1987000200005 3322239
    [Google Scholar]
  66. Li W. Zhao X. Zhan Q. Chai W. Mahyoub R. Yang Y. Shen B. Chen K. Unique CT imaging findings of liver in Wilson’s disease. Abdom. Imaging 2011 36 1 69 73 10.1007/s00261‑010‑9606‑8 20195595
    [Google Scholar]
  67. Paternostro R. Pfeiffenberger J. Ferenci P. Non-invasive diagnosis of cirrhosis and long-term disease monitoring by transient elastography in patients with Wilson disease. Liver Int. 2020 40 4 894 904 10.1111/liv.14368
    [Google Scholar]
  68. Litwin T. Gromadzka G. Członkowska A. Gołębiowski M. Poniatowska R. The effect of gender on brain MRI pathology in Wilson’s disease. Metab. Brain Dis. 2013 28 1 69 75 10.1007/s11011‑013‑9378‑2 23315358
    [Google Scholar]
  69. Li X. Feng Z. Tang W. Yu X. Qian Y. Liu B. Li X. Yang R. Yu Y. Sex differences in clinical characteristics and brain MRI change in patients with Wilson’s disease in a chinese population. Front. Physiol. 2018 9 1429 10.3389/fphys.2018.01429 30356741
    [Google Scholar]
  70. Sinha S. Taly A.B. Ravishankar S. Prashanth L.K. Venugopal K.S. Arunodaya G.R. Vasudev M.K. Swamy H.S. Wilson’s disease: Cranial MRI observations and clinical correlation. Neuroradiology 2006 48 9 613 621 10.1007/s00234‑006‑0101‑4 16752136
    [Google Scholar]
  71. Prashanth L.K. Sinha S. Taly A.B. Vasudev M.K. Do MRI features distinguish Wilson’s disease from other early onset extrapyramidal disorders? An analysis of 100 cases. Mov. Disord. 2010 25 6 672 678 10.1002/mds.22689 20437536
    [Google Scholar]
  72. Prashanth L.K. Taly A.B. Sinha S. Prognostic factors in patients presenting with severe neurological forms of Wilson’s disease. QJM 2005 98 8 557 563 10.1093/qjmed/hci095
    [Google Scholar]
  73. Litwin T. Dzieżyc K. Karliński M. Chabik G. Czepiel W. Członkowska A. Early neurological worsening in patients with Wilson’s disease. J. Neurol. Sci. 2015 355 1-2 162 167 10.1016/j.jns.2015.06.010 26071888
    [Google Scholar]
  74. Yang X. Tang X. Zhang Y. Luo K. Jiang Y. Luo H. Lei J. Wang W. Li M. Chen H. Deng S. Lai L. Liang J. Zhang M. Tian Y. Xu Y. Prospective evaluation of the diagnostic accuracy of hepatic copper content, as determined using the entire core of a liver biopsy sample. Hepatology 2015 62 6 1731 1741 10.1002/hep.27932 26095812
    [Google Scholar]
  75. Li G. Wu R. Tong R. Bo B. Zhao Y. Gillen K.M. Spincemaille P. Ku Y. Du Y. Wang Y. Wang X. Li J. Quantitative measurement of metal accumulation in brain of patients with Wilson’s disease. Mov. Disord. 2020 35 10 1787 1795 10.1002/mds.28141 32681698
    [Google Scholar]
  76. Fanni D. Guido M. Gerosa C. Vallascas V. Moi M. Coni P. Vallebona E. Eyken V.P. Barcellona D. Scano A. Orrù G. Pampaloni P. Castagnola M. Faa G. Liver changes in Wilson’s disease: The full spectrum. A report of 127 biopsies from 43 patients. Eur. Rev. Med. Pharmacol. Sci. 2021 25 12 4336 4344 10.26355/eurrev_202106_26142 34227068
    [Google Scholar]
  77. Cope-Yokoyama S. Finegold M.J. Sturniolo G.C. Kim K. Mescoli C. Rugge M. Medici V. Wilson disease: Histopathological correlations with treatment on follow-up liver biopsies. World J. Gastroenterol. 2010 16 12 1487 1494 10.3748/wjg.v16.i12.1487 20333789
    [Google Scholar]
  78. Aigner E. Strasser M. Haufe H. Sonnweber T. Hohla F. Stadlmayr A. Solioz M. Tilg H. Patsch W. Weiss G. Stickel F. Datz C. A role for low hepatic copper concentrations in nonalcoholic Fatty liver disease. Am. J. Gastroenterol. 2010 105 9 1978 1985 10.1038/ajg.2010.170 20407430
    [Google Scholar]
  79. Ferenci P. Caca K. Loudianos G. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003 23 3 139 142 10.1034/j.1600‑0676.2003.00824.x
    [Google Scholar]
  80. Nazer H. Ede R.J. Mowat A.P. Williams R. Wilson’s disease: Clinical presentation and use of prognostic index. Gut 1986 27 11 1377 1381 10.1136/gut.27.11.1377 3792921
    [Google Scholar]
  81. Weiss K.H. Gotthardt D.N. Klemm D. Merle U. Ferenci-Foerster D. Schaefer M. Ferenci P. Stremmel W. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology 2011 140 4 1189 1198.e1 10.1053/j.gastro.2010.12.034 21185835
    [Google Scholar]
  82. Marcellini M. Ciommo D.V. Callea F. Devito R. Comparcola D. Sartorelli M.R. Carelli F. Nobili V. Treatment of Wilson’s disease with zinc from the time of diagnosis in pediatric patients: A single-hospital, 10-year follow-up study. J. Lab. Clin. Med. 2005 145 3 139 143 10.1016/j.lab.2005.01.007 15871305
    [Google Scholar]
  83. Santiago R. Gottrand F. Debray D. Bridoux L. Lachaux A. Morali A. Lapeyre D. Lamireau T. Zinc therapy for wilson disease in children in french pediatric centers. J. Pediatr. Gastroenterol. Nutr. 2015 61 6 613 618 10.1097/MPG.0000000000000926 26230903
    [Google Scholar]
  84. Xue B.C. Yang R.M. Hu, JY Effect of Gandou Decoction IV combined with short-term decoppering therapy with sodium dimercapto-sulphonate on serum indexes of hepatic fibrosis in patients with Wilson’ s disease. J. Inte. Trad. West. Med. 2007 27 9 785 788
    [Google Scholar]
  85. Li L.Y. Yang W.M. Chen H.Z. Wu Y.H. Fang X. Zhang J. Wang Z. Han Y.S. Wang Y. Successful splenectomy for hypersplenism in Wilson’s disease: A single center experience from china. PLoS One 2015 10 4 e0124569 10.1371/journal.pone.0124569 25910248
    [Google Scholar]
  86. Chen H. Wang X. Zhang J. Xie D. Effect of splenectomy based on inverse probability weighting of the propensity score on Wilson’s disease with hypersplenism: A retrospective cohort study. Exp. Ther. Med. 2023 25 5 220 10.3892/etm.2023.11919 37123215
    [Google Scholar]
  87. Yao Y. Zhang J. Jiang H. Li R. Xie D. Jiang F. Zhang W. Ma M. Nomogram for prediction of portal vein system thrombosis after splenectomy for hypersplenism in patients with Wilson disease. Ann. Palliat. Med. 2022 11 12 3626 3635 10.21037/apm‑22‑826 36571168
    [Google Scholar]
  88. Li L.Y. Chen H.Z. Bao Y.C. Successful treatment of hypersplenism in wilson’s disease by partial splenic embolization. J. Invest. Surg. 2018 31 2 75 81 10.1080/08941939.2016.1278058
    [Google Scholar]
  89. Dhawan A. Taylor R.M. Cheeseman P. Silva D.P. Katsiyiannakis L. Mieli-Vergani G. Wilson’s disease in children: 37-Year experience and revised King’s score for liver transplantation. Liver Transpl. 2005 11 4 441 448 10.1002/lt.20352 15776453
    [Google Scholar]
  90. Petrasek J. Jirsa M. Sperl J. Kozak L. Taimr P. Spicak J. Filip K. Trunecka P. Revised King’s College score for liver transplantation in adult patients with Wilson’s disease. Liver Transpl. 2007 13 1 55 61 10.1002/lt.20920 17154398
    [Google Scholar]
  91. Roberts E.A. Schilsky M.L. Current and emerging issues in Wilson’s disease. N. Engl. J. Med. 2023 389 10 922 938 10.1056/NEJMra1903585 37672695
    [Google Scholar]
  92. Ahmad A. Torrazza-Perez E. Schilsky M.L. Liver transplantation for Wilson disease. Handb. Clin. Neurol. 2017 142 193 204 10.1016/B978‑0‑444‑63625‑6.00016‑1 28433103
    [Google Scholar]
  93. Pal P.K. Sinha S. Pillai S. Taly A.B. Abraham R.G. Successful treatment of tremor in Wilson’s disease by thalamotomy: A case report. Mov. Disord. 2007 22 15 2287 2290 10.1002/mds.21750 17914724
    [Google Scholar]
  94. Teive H.A.G. Munhoz R.P. Souza M.M. Antoniuk S.A. Santos M.L.S.F. Teixeira M.J. Barbosa E.R. Carvalho R.C. Scaff M. Werneck L.C. Status dystonicus: Study of five cases. Arq. Neuropsiquiatr. 2005 63 1 26 29 10.1590/S0004‑282X2005000100005 15830060
    [Google Scholar]
  95. Litwin T. Dusek P. Antos A. Członkowska A. Bembenek J. Tackling the neurological manifestations in Wilson’s disease – currently available treatment options. Expert Rev. Neurother. 2023 23 12 1249 1259 10.1080/14737175.2023.2268841 37842984
    [Google Scholar]
  96. Roberts E.A. Schilsky M.L. Diagnosis and treatment of Wilson disease: An update. Hepatology 2008 47 6 2089 2111 10.1002/hep.22261 18506894
    [Google Scholar]
  97. Brewer G.J. Johnson V.D. Dick R.D. Hedera P. Fink J.K. Kluin K.J. Treatment of Wilson’s disease with zinc. XVII: Treatment during pregnancy. Hepatology 2000 31 2 364 370 10.1002/hep.510310216 10655259
    [Google Scholar]
  98. Shimono N. Ishibashi H. Ikematsu H. Kudo J. Shirahama M. Inaba S. Maeda K. Yamasaki K. Niho Y. Fulminant hepatic failure during perinatal period in a pregnant woman with Wilson’s disease. Gastroenterol. Jpn. 1991 26 1 69 73 10.1007/BF02779512 2007459
    [Google Scholar]
  99. Kodama H. Anan Y. Izumi Y. Sato Y. Ogra Y. Copper and zinc concentrations in the breast milk of mothers undergoing treatment for Wilson’s disease: A prospective study. BMJ Paediatr. Open 2021 5 1 e000948 10.1136/bmjpo‑2020‑000948 34222678
    [Google Scholar]
  100. Członkowska A. Litwin T. Dusek P. Ferenci P. Lutsenko S. Medici V. Rybakowski J.K. Weiss K.H. Schilsky M.L. Wilson disease. Nat. Rev. Dis. Primers 2018 4 1 21 10.1038/s41572‑018‑0018‑3 30190489
    [Google Scholar]
  101. Hefter H. Tezayak O. Rosenthal D. Long-term outcome of neurological Wilson’s disease. Parkinsonism Relat. Disord. 2018 49 48 53 10.1016/j.parkreldis.2018.01.007 29331561
    [Google Scholar]
  102. Low H.L. Alexander S.K. Misbahuddin A. Gillett G.T. Posterior subthalamic area deep brain stimulation for treatment of tremor and dystonia in Wilson’s disease. Brain Stimul. 2019 12 5 1304 1306 10.1016/j.brs.2019.05.014 31138489
    [Google Scholar]
  103. Beaulieu-Boire I. Aquino C.C. Fasano A. Poon Y.Y. Fallis M. Lang A.E. Hodaie M. Kalia S.K. Lozano A. Moro E. Deep brain stimulation in rare inherited dystonias. Brain Stimul. 2016 9 6 905 910 10.1016/j.brs.2016.07.009 27743838
    [Google Scholar]
  104. Sidiropoulos C. Hutchison W. Mestre T. Moro E. Prescott I.A. Mizrachi A.V. Fallis M. Rughani A.I. Kalia S.K. Lozano A. Fox S. Bilateral pallidal stimulation for Wilson’s disease. Mov. Disord. 2013 28 9 1292 1295 10.1002/mds.25446 23554137
    [Google Scholar]
  105. Nagral A. Sarma M.S. Matthai J. Kukkle P.L. Devarbhavi H. Sinha S. Alam S. Bavdekar A. Dhiman R.K. Eapen C.E. Goyal V. Mohan N. Kandadai R.M. Sathiyasekaran M. Poddar U. Sibal A. Sankaranarayanan S. Srivastava A. Thapa B.R. Wadia P.M. Yachha S.K. Dhawan A. Wilson’s disease: Clinical practice guidelines of the indian national association for study of the liver, the indian society of pediatric gastroenterology, hepatology and nutrition, and the movement disorders society of india. J. Clin. Exp. Hepatol. 2019 9 1 74 98 10.1016/j.jceh.2018.08.009 30765941
    [Google Scholar]
  106. Cai H. Cheng X. Wang X.P. ATP7B gene therapy of autologous reprogrammed hepatocytes alleviates copper accumulation in a mouse model of Wilson’s disease. Hepatology 2022 76 4 1046 1057 10.1002/hep.32484 35340061
    [Google Scholar]
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