Wilson 病（肝豆状核变性）

Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023 Apr 1;77(4):1428-55. 全文  摘要

Shribman S, Marjot T, Sharif A, et al; British Association for the Study of the Liver Rare Diseases Special Interest Group. Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-75. 摘要

Socha P, Janczyk W, Dhawan A, et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):334-44.全文  摘要

European Association for the Study of the Liver. EASL clinical practice guidelines: Wilson's disease. J Hepatol. 2012 Mar;56(3):671-85.全文  摘要

Nazer H, Ede RJ, Mowat AP, et al. Wilson's disease: clinical presentation and use of prognostic index. Gut. 1986 Nov;27(11):1377-81.全文  摘要

1. Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993 Dec;5(4):327-37. 摘要

2. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993 Dec;5(4):344-50. 摘要

3. Shah AB, Chernov I, Zhang HT, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet. 1997 Aug;61(2):317-28.全文  摘要

4. Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers. 2018 Sep 6;4(1):21.全文  摘要

5. Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023 Apr 1;77(4):1428-55. 全文  摘要

6. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003 Jun;23(3):139-42. 摘要

7. Sandahl TD, Laursen TL, Munk DE, et al. The prevalence of Wilson's disease: an update. Hepatology. 2020 Feb;71(2):722-32. 摘要

8. Poujois A, Woimant F. Challenges in the diagnosis of Wilson disease. Ann Transl Med. 2019 Apr;7(suppl 2):S67.全文  摘要

9. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun. 1993 Nov 30;197(1):271-7. 摘要

10. Ala A, Borjigin J, Rochwarger A, et al. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 2005 Mar;41(3):668-70.全文  摘要

11. Wallace DF, Dooley JS. ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. Hum Genet. 2020 Aug;139(8):1065-75. 摘要

12. National Institutes of Health, Office of Dietary Supplements. Copper: fact sheet for health professionals. Mar 2021 [internet publication].全文

13. Pak K, Ordway S, Sadowski B, et al. Wilson's disease and iron overload: pathophysiology and therapeutic implications. Clin Liver Dis (Hoboken). 2021 Feb;17(2):61-6.全文  摘要

14. Linder MC. Apoceruloplasmin: abundance, detection, formation, and metabolism. Biomedicines. 2021 Feb 25;9(3):233.全文  摘要

15. Shiva S, Wang X, Ringwood LA, et al. Ceruloplasmin is a NO oxidase and nitrite synthase that determines endocrine NO homeostasis. Nat Chem Biol. 2006 Sep;2(9):486-93. 摘要

16. Dusek P, Litwin T, Członkowska A. Neurologic impairment in Wilson disease. Ann Transl Med. 2019 Apr;7(suppl 2):S64.全文  摘要

17. Ferenci P, Stremmel W, Członkowska A, et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease. Hepatology. 2019 Apr;69(4):1464-76. 摘要

18. Shribman S, Warner TT, Dooley JS. Clinical presentations of Wilson disease. Ann Transl Med. 2019 Apr;7(suppl 2):S60.全文  摘要

19. Brewer GJ. Recognition, diagnosis, and management of Wilson's disease. Proc Soc Exp Biol Med. 2000 Jan;223(1):39-46. 摘要

20. Starosta-Rubinstein S, Young AB, Kluin K, et al. Clinical assessment of 31 patients with Wilson's disease: correlations with structural changes on magnetic resonance imaging. Arch Neurol. 1987 Apr;44(4):365-70. 摘要

21. Brewer GJ. Novel therapeutic approaches to the treatment of Wilson's disease. Exp Opin Pharmacother. 2006 Feb;7(3):317-24. 摘要

22. Shribman S, Marjot T, Sharif A, et al; British Association for the Study of the Liver Rare Diseases Special Interest Group. Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-75. 摘要

23. Socha P, Janczyk W, Dhawan A, et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):334-44.全文  摘要

24. Taly AB, Meenakshi-Sundaram S, Sinha S, et al. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore). 2007 Mar;86(2):112-21.全文  摘要

25. Dening TR, Berrios GE. Wilson's disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry. 1989 Dec;46(12):1126-34. 摘要

26. Akil M, Brewer GJ. Psychiatric and behavioral abnormalities in Wilson's disease. Adv Neurol. 1995;65:171-8. 摘要

27. Ryan A, Nevitt SJ, Tuohy O, et al. Biomarkers for diagnosis of Wilson's disease. Cochrane Database Syst Rev. 2019 Nov 19;(11):CD012267.全文  摘要

28. Merle U, Eisenbach C, Weiss KH, et al. Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease. J Hepatol. 2009 Nov;51(5):925-30. 摘要

29. McMillin GA, Travis JJ, Hunt JW. Direct measurement of free copper in serum or plasma ultrafiltrate. Am J Clin Pathol. 2009 Feb;131(2):160-5.全文  摘要

30. Stromeyer FW, Ishak KG. Histology of the liver in Wilson's disease: a study of 34 cases. Am J Clin Pathol. 1980 Jan;73(1):12-24. 摘要

31. Johncilla M, Mitchell KA. Pathology of the liver in copper overload. Semin Liver Dis. 2011 Aug;31(3):239-44. 摘要

32. van Wassenaer-van Hall HN. Neuroimaging in Wilson disease. Metab Brain Dis. 1997 Mar;12(1):1-19. 摘要

33. Gupta A, Chakravarthi S, Goyal MK. 'Face of giant panda': a rare imaging sign in Wilson's disease. QJM. 2014 Jul;107(7):579.全文  摘要

34. Collins CJ, Yi F, Dayuha R, et al. Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease. Gastroenterology. 2021 Jun;160(7):2367-82.e1.全文  摘要

35. Owada M, Suzuki K, Fukushi M, et al. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J Pediatr. 2002 May;140(5):614-6. 摘要

36. Aoki K. Newborn screening in Japan. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:80. 摘要

37. Kroll CA, Ferber MJ, Dawson BD, et al. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab. 2006 Sep-Oct;89(1-2):134-8. 摘要

38. Reau N, Munoz SJ, Schiano T. Liver disease during pregnancy. Am J Gastroenterol. 2022 Oct 1;117(10s):44-52.全文  摘要

39. Hedera P. Update on the clinical management of Wilson's disease. Appl Clin Genet. 2017 Jan 13;10:9-19.全文  摘要

40. European Association for the Study of the Liver. EASL clinical practice guidelines: Wilson's disease. J Hepatol. 2012 Mar;56(3):671-85.全文  摘要

41. Walshe JM. The management of Wilson's disease with trienthylene tetramine 2HC1 (Trien 2HC1). Prog Clin Biol Res. 1979;34:271-80. 摘要

42. Scheinberg IH, Jaffe ME, Sternlieb I. The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease. N Engl J Med. 1987 Jul 23;317(4):209-13. 摘要

43. Ala A, Aliu E, Schilsky ML. Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson disease. Dig Dis Sci. 2015 May;60(5):1433-9.全文  摘要

44. Boga S, Jain D, Schilsky ML. Trientine induced colitis during therapy for Wilson disease: a case report and review of the literature. BMC Pharmacol Toxicol. 2015 Nov 20;16:30.全文  摘要

45. Wiernicka A, Jańczyk W, Dądalski M, et al. Gastrointestinal side effects in children with Wilson's disease treated with zinc sulphate. World J Gastroenterol. 2013 Jul 21;19(27):4356-62.全文  摘要

46. Czlonkowska A, Gajda J, Rodo M. Effects of long-term treatment in Wilson's disease with D-penicillamine and zinc sulphate. J Neurol. 1996 Mar;243(3):269-73. 摘要

47. Lang CJ, Rabas-Kolominsky P, Engelhardt A, et al. Fatal deterioration of Wilson's disease after institution of oral zinc therapy. Arch Neurol. 1993 Oct;50(10):1007-8. 摘要

48. Nazer H, Ede RJ, Mowat AP, et al. Wilson's disease: clinical presentation and use of prognostic index. Gut. 1986 Nov;27(11):1377-81.全文  摘要

49. Dhawan A, Taylor RM, Cheeseman P, et al. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl. 2005 Apr;11(4):441-8.全文  摘要

50. Chanpong A, Dhawan A. Re-evaluation of King Wilson Index in children with acutely decompensated hepatic Wilson disease. J Pediatr Gastroenterol Nutr. 2022 Apr 1;74(4):510-5. 摘要

51. Santos Silva EE, Sarles J, Buts JP, et al. Successful medical treatment of severely decompensated Wilson disease. J Pediatr. 1996 Feb;128(2):285-7. 摘要

52. Pinter R, Hogge WA, McPherson E. Infant with severe penicillamine embryopathy born to a woman with Wilson disease. Am J Med Genet A. 2004 Jul 30;128A(3):294-8. 摘要

53. Pfeiffenberger J, Beinhardt S, Gotthardt DN, et al. Pregnancy in Wilson's disease: management and outcome. Hepatology. 2018 Apr;67(4):1261-9.全文  摘要

54. Mussi MCL, Nardelli MJ, Santos BC, et al. Pregnancy outcomes in Wilson's disease women: single-center case series. Fetal Pediatr Pathol. 2021 Aug 5;:1-8. 摘要

55. Yu XE, Pan M, Han YZ, et al. The study of Wilson disease in pregnancy management. BMC Pregnancy Childbirth. 2019 Dec 26;19(1):522.全文  摘要

56. Kodama H, Anan Y, Izumi Y, et al. 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.全文  摘要

57. ClinicalTrials.gov. CHELATE Study: trientine tetrahydrochloride (TETA 4HCL) for the treatment of Wilson's disease. NCT03539952. Apr 2022 [internet publication].全文

58. Brewer GJ, Hedera P, Kluin KJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch Neurol. 2003 Mar;60(3):379-85.全文  摘要

59. 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. Arch Neurol. 2006 Apr;63(4):521-7.全文  摘要

60. Brewer GJ, Terry CA, Aisen AM, et al. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol. 1987 May;44(5):490-3. 摘要

61. ClinicalTrials.gov. A phase 2, single-arm pathologist-blinded 48-week study using liver biopsy specimens to assess copper concentration and histopathologic changes in ALXN1840-treated patients with Wilson disease followed by an up to 48-weeks extension period. NCT04422431. Jul 2022 [internet publication].全文

62. ClinicalTrials.gov. A phase I/II study of VTX-801 in adult patients with Wilson's disease (GATEWAY). NCT04537377. Aug 2022 [internet publication].全文

63. ClinicalTrials.gov. Clinical study of UX701 AAV-mediated gene transfer for the treatment of Wilson disease. NCT04884815. Aug 2022 [internet publication].全文

64. 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 Lab Clin Med. 2003 Dec;142(6):385-90. 摘要