Diagnosis and treatment of Wilson's disease

Seminars in Neurology

Volumn 19, Issue 3, 1999, Pages 261-270

  Brewer, George J ^a,b   Fink, John K ^b,c   Hedera, Peter ^b  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

Author keywords

ATP7B; Copper; Liver disease; Neurological disease; Wilson's disease

Indexed keywords

COPPER; COPPER 64; PENICILLAMINE; TETRATHIOMOLYBDIC ACID; TRIENTINE; ZINC ACETATE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BEHAVIOR DISORDER; BRAIN INJURY; CLINICAL FEATURE; COPPER BLOOD LEVEL; DIAGNOSTIC APPROACH ROUTE; DNA DETERMINATION; LIVER BIOPSY; LIVER DISEASE; MOTOR DYSFUNCTION; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; SLIT LAMP; URINALYSIS; WILSON DISEASE;

EID: 0032750436     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040842     Document Type: Article

References (66)

1. Brewer GJ, Yuzbasiyan-Gurkan V. Wilson disease. Medicine 1992;71:139-164
2. Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LH Jr, ed. Major Problems in Internal Medicine, vol. 23. Philadelphia: W.B. Saunders Company, 1984
3. Schilsky ML. Wilson disease: Genetic basis of copper toxicity and natural history. Sem Liver Dis 1996;16:83-95
4. Bush JA, Mahoney JP, Markowitz H, Gubler CJ, Cartwright GE, Wintrobe MM. Studies on copper metabolism. XVI. Radioactive copper studies in normal subjects and in patients with hepatolenticular degeneration. J Clin Ivest 1955;34:1766-1778
5. Frommer DJ. Defective biliary excretion of copper in Wilson's disease. Gut 1974;15:125-129
6. Gibbs K, Walshe JM. Biliary excretion of copper in Wilson's disease. Lancet 1980;2:538-539
7. Iyengar V, Brewer GJ, Dick RD, Owyang C. Studies of cholecystokinin-stimulated biliary secretions reveal a high molecular weight copper-binding substance in normal subjects that is absent in patients with Wilson's disease. J Lab Clin Med 1988;111:267-274
8. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson's disease gene is a putative copper transporting P-type AT-Pase similar to the Menkes gene. Nature Genet 1993;5:327-337
9. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting AT-Pase with homology to the Menkes disease gene. Nature Genet 1993;5:44-50
10. 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;197:271-277
11. Cox DW. Review: Molecular approaches to inherited liver disease. Focus on Wilson's disease. J Gastroenterol Hepatol 1997;12: S251-255
12. Fink JK, Hedera P, Brewer, GJ. Hepatolenticular degeneration (Wilson's disease). Neurologist 1995;5:171-185
13. Kayser B. Ueber einen Fall von angeborener grünlicher Verfärbung der kornea. Klin Mbl Augenheilk 1902;40:22-25
14. Fleischer B. Zwei weitere Fälle von grünliche Verfärbung der Kornea. Klin Mbl Augenheilk 1903;41:489-491
15. Fleming CR, Dickson ER, Wahner HW, Hollenhorst RW, McCall JT. Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 1977;86:285-288
16. Owen CA Jr. Wilson's disease: The etiology, clinical aspects, and treatment of inherited copper toxicosis. Park Ridge, NJ: Noyes Publications, 1981
17. Sternlieb I, Morell AG, Bauer CD, Combes B, DeBobes-Sternberg S, Scheinberg IH. Detection of the heterozygous carrier of the Wilson's disease gene. J Clin Invest 1961;40:707-715
18. Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic Basis of Inherited Diseases, 6th ed., vol. 1. New York: McGraw-Hill, 1989:1411-1431
19. Houwen RHJ, Billinsley GD, Kumaranayake AP, Cox DW. Identification of diagnostic errors in Wilson's disease by DNA-haplo-typing. Am J Hum Genet 1989;45(suppl.):A196
20. Schouwink G. De hepatocecerebrale degeneratie, met een onderzoek naar de zonkstrofwisseling. Thesis (with a summary in English, French, and German), University of Amsterdam; 1961
21. Brewer GJ, Hill GM, Prasad AS, Cossack ZT, Rabbani P. Oral zinc therapy for Wilson's disease. Ann Intern Med 1983;99:3114-320
22. Hill GM, Brewer GJ, Prasad AS, Hydrick CR, Hartmann DE. Treatment of Wilson's disease with zinc: I. Oral zinc therapy regimens. Hepatology 1987;7:522-528
23. 64 copper uptake with copper balance. Am J Med Sci 1986;12:344-349
24. Brewer GJ, Hill GM, Dick RD, Nostrant TT, Sams JS, Wells JJ, et al. Treatment of Wilson's disease with zinc: III. Prevention of reaccumulation of hepatic copper. J Lab Clin Med 1987;109:526-531
25. Brewer GJ, Hill GM, Prasad AS, Dick RD. Treatment of Wilson's disease with zinc: IV. Efficacy monitoring using urine and plasma copper. Proc Soc Exper Biol Med 1987;7:446-455
26. Yuzbasiyan-Gurkan V, Brewer GJ, Abrams GD, Main B, Giacherio D. Treatment of Wilson's disease with zinc: V. Changes in serum levels of lipase, amylase and alkaline phosphatase in Wilson's disease patients. J Lab Clin Med 1989;114:520-526
27. Brewer GJ, Yuzbaysian-Gurkan V, Lee D-Y, Appelmann H. The treatment of Wilson's disease with zinc: VI. Initial treatment studies. J Lab Clin Med 1989;114:633-638
28. Lee D-Y, Brewer GJ, Wang Y. The treatment of Wilson's disease with zinc: VII. Protection of the liver from copper toxicity by zinc induced metallothionein in a rat model. J Lab Clin Med 1989;114:639-645
29. Brewer GJ, Yuzbasiyan-Gurkan V, Dick R. Zinc therapy of Wilson's disease: VIII. Dose response studies. Trace Elem in Exp Med 1990;3:227-234
30. Brewer GJ, Yuzbasiyan-Gurkan V, Johnson V. The treatment of Wilson's disease with zinc: IX. Response of serum lipids. J Lab Clin Med 1991;118:466-470
31. Yuzbasiyan-Gurkan V, Grider A, Nostrant T, Cousins RJ, Brewer GJ. The treatment of Wilson's disease with zinc: X. Intestinal metallothionein induction. J Lab Clin Med 1992;120:380-386
32. Brewer GJ, Yuzbasiyan-Gurkan V, Johnson V, Dick RD, Wang Y. Treatment of Wilson's disease with zinc: XI. Interaction with other anticopper agents. J Am Coll Nutr 1993;12:26-30
33. Brewer GJ, Yuzbasiyan-Gurkan V, Johnson V, Dick RD, Wang Y. Treatment of Wilson's disease with zinc: XII. Dose regimen requirements. Amer J Med Sci 1993;305:199-202
34. Brewer GJ, Dick RD, Yuzbasiyan-Gurkan V, Johnson V, Wang Y. Treatment of Wilson's disease with zinc: XIII. Therapy with zinc in presymptomatic patients from the time of diagnosis. J Lab Clin Med 1994;123:849-858
35. Brewer GJ, Johnson V, Kaplan J. Treatment of Wilson's disease with zinc: XIV. Studies of the effect of zinc on lymphocyte function. J Lab Clin Med 1997;129:649-652
36. Brewer GJ, Dick RD, Johnson V, Brunberg JA, Kluin KJ, Fink JK. Treatment of Wilson's disease with zinc: XV. Long-term follow-up studies. J Lab Clin Med 1998;132:264-278
37. Brewer GJ, Dick RD, Johnson V, Fink JK, Kluin KJ, Daniels S. Treatment of Wilson's disease with zinc: XVI. Treatment during the pediatric years. (Accepted for publication in Hepatology)
38. Hoogenraad TU, Koevoet R, De Ruyter Korver EGWM. Oral zinc sulfate as long-term treatment in Wilson's disease (hepatolenticular degeneration). Eur Neurol 1979;18:205-211
39. Hoogenraad TU, Van den Hamer CJA, Koevoet R, De Ruyter Korver EGWM. Oral zinc in Wilson's disease. Lancet 1978;2: 1262-1263
40. Hoogenraad TU, Van Hattum J, Van den Hamer CJA. Management of Wilson's disease with zinc sulfate. Experience in a series of 27 patients. J Neurol Sci 1987;77:137-146
41. Hall AC, Young BW, Bremner I. Intestinal metallothionein and the mutual antagonism between copper and zinc in the rat. J Inorg Biochem 1979;11:57-66
42. Menard MP, McCormick CC, Cousins RJ. Regulation of intestinal metallothionein biosynthesis in rats by dietary zinc. J Nutr 1981;111:1351-1361
43. Oestreicher P, Cousins RJ. Copper and zinc absorption in the rat: Mechanism of mutual antagonism. J Nutr 1985;115:159-166
44. Food and Drug Administration. Teratogenic evaluation of FDA 71-49 (zinc sulfate). Food and Drug Research Laboratories, Inc. Prepared for Food and Drug Administration, United States Department of commerce Publications PD-221 805, February 1973 and PB 267, June 1974
45. Walshe JM. Penicillamine. A new oral therapy for Wilson's disease. Am J Med 1956;21:487-495
46. Brewer GJ, Terry CA, Aisen AM, Hill GM. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987;44:490-493
47. Walshe JM. Treatment of Wilson's disease with trientine (triethylene tetramine) dichloride. Lancet 1982;1:643-647
48. Keen CL, Lonnerdal B, Hurley LS. Teratogenic effect of copper deficiency and excess. In: Sorenson JRJ, ed. Inflamatory diseases and copper. Clifton, NJ: Humana Press, 1982:109-121
49. Mason J. The biochemical pathogenesis of molybdenum-induced copper deficiency syndromes in ruminants: Towards the final chapter. Ir Vet J 1990;43:18-21
50. Mills CF, El-Gallad TT, Bremner I. Effects of molybdate, sulfide, and tetrathiomolybdate on copper metabolism in rats. J Inorgan Biochem 1981;14:189
51. Bremner I, Mills CF, Young BW. Copper metabolism in rats given di-or trithiomolybdates. J Inorgan Biochem 1982;16:109
52. Mills CG, El-Gallad TT, Bremner I, et al. Copper and molybdenum absorption by rats given ammonium tetrathiomolybdate. J Inorgan Biochem 1981;14:163
53. Gooneratne SR, Howell JM, Gawthorne JM. An investigation of the effects of intravenous administration of thiomolybdate on copper metabolism in chronic Cu-poisoned sheep. Br J Nutr 1981;46:469
54. Brewer GJ, Dick RD, Yuzbasiyan-Gurkin V, Tanakow R, Young AB, Kluin KJ. Initial therapy of patients with Wilson's disease with tetrathiomolybdate. Arch Neurol 1991;48:42-47
55. Brewer GJ, Dick RD, Johnson V, Wang Y, Yuzbasiyan-Gurkin V, Kluin KJ, et al. Treatment of Wilson's disease with ammonium tetrathiomolybdate: I. Initial therapy in 17 neurologically affected patients. Arch Neurol 1994;51:545-554
56. Brewer GJ, Johnson V, Dick RD, Wang Y, Kluin KJ, Fink JK, et al. Treatment of Wilson Disease with ammonium tetrathiomolybdate: II. Initial therapy in 33 neurologically affected patients and follow-up with zinc therapy. Arch Neurol 1996;53:1017-1025
57. Harper PI, Wlashe JM. Reversible pancytopenia secondary to treatment with tetrathiomolybdate. Br J Haematol 1986;64: 851-853
58. Nazer H, Ede RJ, Mowat AP, Williams R. Wilson's disease: Clinical presentation and use of prognostic index. Gut 1986;27: 1377-1381
59. Scheinberg IH, Sternlieb I. Pregnancy in penicillamine-treated patients with Wilson's disease. N Engl J Med 1975;293:1300-1302
60. Mjolnerod OK, Dommerud SA, Rasmussen K, Gjeruldesen ST. Congenital connective tissue defect probably due to D-penicillamine treatment in pregnancy. Lancet 1971;1:673-675
61. Solomon L, Abrams G, Dinner M, Berman L. Neonatal abnormalities associated with D-penicillamine treatment during pregnancy. N Engl J Med 1977;296:54-55
62. Barbeau A, Friesen H. Treatment of Wilson's disease with L-dopa after failure with penicillamine. Lancet 1970;1:1180-1181
63. Gelmers HJ, Troost J, Willemse J. Wilson's disease: Modification by L-DOPA. Neuropaediatrie 1973;4:453-457
64. Morgan JP, Preziosi TJ, Bianchine JR. Ineffectivness of L-dopa as supplement to penicillamine in a case of Wilson's disease. Lancet 1970;1:659
65. Frankel JP, Hughes A, Lees AJ, Stern GM, Walshe JM. Use of apomorphine to test for dopamine responsiveness in Wilson's disease. Lancet 1989;1:801-802
66. Shoulson I, Goldblatt D, Plassche W, Wilson G. Some therapeutic observations in Wilson's disease. In: Fahn S, Calne DB, Shoulson I, eds. Advances in Neurology, vol. 37: Experimental Therapeutics of Movement Disorders. New York: Raven Press, 1983:239-246