Wilson's disease. Update of a systemic disorder with protean manifestations

Gastroenterology Clinics of North America

Volumn 27, Issue 3, 1998, Pages 655-681

  Cuthbert, J A ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CERULOPLASMIN; COPPER ION; REACTIVE OXYGEN METABOLITE;

BILE FLOW; BONE; BRAIN; CELL DAMAGE; CHELATION THERAPY; ENDOCRINE GLAND; ERYTHROCYTE; GENE THERAPY; HEART; HUMAN; ION TRANSPORT; JOINT; LIVER CELL; LIVER TRANSPLANTATION; PANCREAS; PROTEIN DEFECT; REVIEW; SKIN; URINARY EXCRETION; URINARY TRACT; WILSON DISEASE;

EID: 0031787511     PISSN: 08898553     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8553(05)70025-X     Document Type: Article

References (121)

1. O. Aagenãs Hereditary recurrent cholestasis with lymphoedema: Two new families Acta Paediatr Scand 63 1974 465 471
2. M. Adamson B. Reiner J.L. Olson Indian childhood cirrhosis in the American child Gastroenterology 102 1992 1771 1777
3. M. Akil J.A. Schwartz D. Dutchak The psychiatric presentations of Wilson's disease J Neuropsychiatr Clin Neurosci 3 1991 377 382
4. R. Amaravadi D.M. Glerum A. Tzagoloff Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment Hum Genet 99 1997 329 333
5. D.H. Berman R.I. Leventhal J.S. Gavaler Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure Gastroenterology 100 1991 1129 1134
6. L. Biempica H. Rauch N. Quintana Morphologic and chemical studies on a murine mutation (toxic milk mice) resulting in hepatic copper toxicosis Lab Invest 59 1988 500 508
7. B. Bonné-Tamir M. Frydman M.S. Agger Wilson's disease in Israel: A genetic and epidemiological study Ann Hum Genet 54 1990 155 168
8. G.J. Brewer R.D. Dick V. Johnson Treatment of Wilson's disease with ammonium tetrathiomolybdate: I. Initial therapy in 17 neurologically affected patients Arch Neurol 51 1994 545 554
9. G.J. Brewer V. Yuzbasiyan-Gurkan Wilson disease Medicine 71 1992 139 164
10. P.C. Bull G.R. Thomas J.M. Rommens The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene Nat Genet 5 1993 327 337
11. Carpenter T.O. Carnes D.L. Jr C.S. Anast Hypoparathyroidism in Wilson's disease N Engl J Med 309 1983 873 877
12. E. Cauza T. Maierdobersberger C. Polli Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin J Hepatol 27 1997 358 362
13. W.S. Cheng S. Govindarajan A.G. Redeker Hepatocellular carcinoma in a case of Wilson's disease Liver 12 1992 42 45
14. C.C. Chu C.C. Huang N.S. Chu Recurrent hypokalemic muscle weakness as an initial manifestation of Wilson's disease Nephron 73 1996 477 479
15. N.S. Chu T.P. Hung Geographic variations in Wilson's disease J Neurol Sci 117 1993 1 7
16. V.C. Culotta L.W.J. Klomp J. Strain The copper chaperone for superoxide dismutase J Biol Chem 272 1997 23469 23472
17. J.A. Cuthbert Wilson's disease: A new gene and an animal model for an old disease J Investig Med 43 1995 323 336
18. J.A. Cuthbert Iron, HFE and hemochromatosis update J Investig Med 45 1997 518 529
19. A. Czlonkowska M. Rodo Late onset of Wilson's disease: Report of a family Arch Neurol 38 1981 729 730
20. D.M. Danks Copper and liver disease Eur J Pediatr 150 1991 142 148
21. D.M. Danks Disorders of copper transport Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 2211 2236
22. D.M. Danks G. Metz R. Sewell Wilson's disease in adults with cirrhosis but no neurological abnormalities BMJ 301 1990 331 332
23. S.E. Davies R. Williams B. Portmann Hepatic morphology and histochemistry of Wilson's disease presenting as fulminant hepatic failure: A study of 11 cases Histopathology 15 1989 385 394
24. W. Davis G.F. Chowrimootoo C.A. Seymour Defective biliary copper excretion in Wilson's disease: The role of caeruloplasmin Eur J Clin Invest 26 1996 893 901
25. T.R. Dening G.E. Berrios Wilson's disease: Psychiatric symptoms in 195 cases Arch Gen Psychiatry 46 1989 1126 1134
26. M.A. Dunn T.L. Blalock R.J. Cousins Metallothionein Proc Soc Exp Biol Med 185 1987 107 119
27. M.J. Eisenger Hepatic copper metabolism Zakim D. Boyer T.D. Hepatology: A Textbook of Liver Disease 1996 WB Saunders Philadelphia 554 563
28. A. Figus A. Angius G. Loudianos Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations Am J Hum Genet 57 1995 1318 1324
29. M.A. Fitzgerald J.B. Gross N.P. Goldstein Wilson's disease (hepatolenticular degeneration) of late adult onset: Report of case Mayo Clin Proc 50 1975 438 442
30. C.R. Fleming E.R. Dickson H.W. Wahner Pigmented corneal rings in nonWilsonian liver disease Ann Intern Med 86 1977 285 288
31. D.J. Frommer Urinary copper excretion and hepatic copper concentrations in liver disease Digestion 21 1981 169 178
32. M. Frydman Genetic aspects of Wilson's disease J Gastroenterol Hepatol 5 1990 483 490
33. A. Giagheddu L. Demelia G. Puggioni Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902–1983) Acta Neurol Scand 72 1985 43 55
34. K. Gibbs J.M. Walshe Liver copper concentration in Wilson's disease: Effect of treatment with “anti-copper” agents J Gastroenterol Hepatol 5 1990 420 424
35. R. Guan C.J. Oon P.K. Wong Primary hepatocellular carcinoma associated with Wilson's disease in a young woman Postgrad Med J 61 1985 357 359
36. H. Gunshin B. Mackenzie U.V. Berger Cloning and characterization of a mammalian proton-coupled metal-ion transporter Nature 388 1997 482 488
37. E.D. Harris Copper transport: An overview Proc Soc Exp Biol Med 196 1991 130 140
38. Z.L. Harris Y. Takahashi H. Miyajima Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism Proc Natl Acad Sci U S A 92 1995 2539 2543
39. H.C. Hoagland N.P. Goldstein Hematologic (cytopenic) manifestations of Wilson's disease (hepatolenticular degeneration) Mayo Clin Proc 53 1978 498 500
40. N.A. Holtzman B.M. Gaumnitz Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma J Biol Chem 245 1970 2354 2358
41. B. Hoppe T. Neuhaus A. Superti-Furga Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease Nephron 65 1993 460 462
42. S.P. Horslen M.S. Tanner T.D.B. Lyon Copper associated childhood cirrhosis Gut 35 1994 1497 1500
43. R.H. Houwen J. Juyn T.U. Hoogenraad H714Q mutation in Wilson disease is associated with late, neurological presentation J Med Genet 32 1995 480 482
44. R. Hu Severe spinal degeneration in Wilson's disease Spine 19 1994 372 375
45. I.H. Hung M. Suzuki Y. Yamaguchi Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae J Biol Chem 272 1997 21461 21466
46. S. Jain P.H. Scheuer B. Archer Histological demonstration of copper and copper-associated protein in chronic liver disease J Clin Pathol 31 1978 784 790
47. K. Jong-Hon Y. Togashi H. Kasai Prevention of spontaneous hepatocellular carcinoma in Long-Evans Cinnamon rats with hereditary hepatitis by the administration of D-penicillamine Hepatology 18 1993 614 620
48. J.H.R. Kägi A. Schäffer Biochemistry of metallothionein Biochemistry 27 1988 8509 8515
49. J. Kato M. Kobune Y. Kohgo Hepatic iron deprivation prevents spontaneous development of fulminant hepatitis and liver cancer in Long-Evans Cinnamon rats J Clin Invest 98 1996 923 929
50. A. Kaushansky M. Frydman H. Kaufman Endocrine studies of the ovulatory disturbances in Wilson's disease (hepatolenticular degeneration) Fertil Steril 47 1987 270 273
51. E.J. Kelly R.D. Palmiter A murine model of Menkes disease reveals a physiological function of metallothionein Nat Genet 13 1996 219 222
52. L.W.J. Klomp J.D. Gitlin Expression of the ceruloplasmin gene in the human retina and brain: Implications for a pathogenic model in aceruloplasminemia Hum Mol Genet 5 1996 1989 1996
53. L.W. Klomp S.J. Lin D.S. Yuan Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis J Biol Chem 272 1997 9221 9226
54. P. Kuan Cardiac Wilson's disease Chest 91 1987 579 583
55. J.Y. Lau C.L. Lai P.C. Wu Wilson's disease: 35 years' experience QJM 75 1990 597 605
56. Y. Li Y. Togashi S. Sato Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis: A model of Wilson's disease J Clin Invest 87 1991 1858 1861
57. J.W. Madden J.W. Ironside D.R. Triger An unusual case of Wilson's disease QJM 55 1985 63 73
58. T. Maier-Dobersberger P. Ferenci C. Polli Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction Ann Intern Med 127 1997 21 26
59. A.J. McCullough C.R. Fleming J.L. Thistle Diagnosis of Wilson's disease presenting as fulminant hepatic failure Gastroenterology 84 1983 161 167
60. A. McQuaid M. Lamand J. Mason The interactions of penicillamine with copper in vivo and the effect on hepatic metallothionein levels and copper/zinc distribution: The implications for Wilson's disease and arthritis therapy J Lab Clin Med 119 1992 744 750
61. K.A. Menerey W. Eider G.J. Brewer The arthropathy of Wilson's disease: Clinical and pathologic features J Rheumatol 15 1988 331 337
62. M. Mori A. Hattori M. Sawaki The LEC rat: A model for human hepatitis, liver cancer, and much more Am J Pathol 144 1994 200 204
63. S.Y. Nakada M.R. Brown R. Rabinowitz Wilson's disease presenting as symptomatic urolithiasis: A case report and review of the literature J Urol 152 1994 978 979
64. H. Nazer R.J. Ede A.P. Mowat Wilson's disease: Clinical presentation and use of prognostic index Gut 27 1986 1377 1381
65. W. Oder G. Grimm H. Kollegger Neurological and neuropsychiatric spectrum of Wilson's disease: A prospective study of 45 cases J Neurol 238 1991 281 287
66. W. Oder L. Prayer G. Grimm Wilson's disease: Evidence of subgroups derived from clinical findings and brain lesions Neurology 43 1993 120 124
67. A. Payne J.D. Gitlin Functional expression of the Menkes disease protein reveals common biochemical mechanisms among copper transporting ATPases J Biol Chem 273 1998 3765 3770
68. M.J. Petris J.F. Mercer J.G. Culvenor Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking EMBO J 15 1996 6084 6095
69. K. Petrukhin S. Lutsenko I. Chernov Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions Hum Mol Genet 3 1994 1647 1656
70. J. Polio R.E. Enriquez A. Chow Hepatocellular carcinoma in Wilson's disease: Case report and review of the literature J Clin Gastroenterol 11 1989 220 224
71. R.J. Polson K. Rolles R.Y. Calne Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation QJM 64 1987 685 691
72. L. Prayer D. Wimberger J. Kramer Cranial MRI in Wilson's disease Neuroradiology 32 1990 211 214
73. A. Propst T. Propst H. Feichtinger Copper-induced acute rhabdomyolysis in Wilson's disease Gastroenterology 108 1995 885 887
74. R.A. Pufahl C.P. Singer K.L. Peariso Metal ion chaperone function of the soluble Cu(I) receptor Atx1 Science 278 1997 853 856
75. H. Rauch Toxic milk, a new mutation affecting cooper metabolism in the mouse J Hered 74 1983 141 144
76. J.K. Roh T.G. Lee B.A. Wie Initial and follow-up brain MRI findings and correlation with the clinical course in Wilson's disease Neurology 44 1994 1064 1068
77. T. Saito Presenting symptoms and natural history of Wilson disease Eur J Pediatr 146 1987 261 265
78. R. Sallie J. Chiyende K.C. Tan Fulminant hepatic failure resulting from coexistent Wilson's disease and hepatitis E Gut 35 1994 849 853
79. R. Sallie L. Katsiyiannakis D. Baldwin Failure of simple biochemical indexes to reliably differentiate fulminant Wilson's disease from other causes of fulminant liver failure Hepatology 16 1992 1206 1211
80. I.H. Scheinberg M.E. Jaffe I. Sternlieb The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease N Engl J Med 317 1987 209 213
81. I.H. Scheinberg I. Sternlieb Is non-Indian childhood cirrhosis caused by excess dietary copper? Lancet 344 1994 1002 1004
82. I.H. Scheinberg I. Sternlieb Wilson's disease Smith L.H. Jr Major Problems in Internal Medicine 1984 WB Saunders Philadelphia 1 171
83. M.L. Schilsky Wilson disease: Genetic basis of copper toxicity and natural history Semin Liver Dis 16 1996 83 95
84. M.L. Schilsky I.H. Scheinberg I. Sternlieb Liver transplantation for Wilson's disease: Indications and outcome Hepatology 19 1994 583 587
85. M.L. Schilsky R.J. Stockert I. Sternlieb Pleiotropic effect of LEC mutation: A rodent model of Wilson's disease Am J Physiol 266 1994 G907 G913
86. A.B. Shah I. Chernov H.T. Zhang Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses Am J Hum Genet 61 1997 317 328
87. W.A. Shaver H. Bhatt B. Combes Low serum alkaline phosphatase activity in Wilson's disease Hepatology 6 1986 859 863
88. M. Solioz A. Odermatt R. Krapf Copper pumping ATPases: Common concepts in bacteria and man FEBS Lett 346 1994 44 47
89. K. Sone M. Maeda K. Wakabayashi Inhibition of hereditary hepatitis and liver tumor development in Long-Evans cinnamon rats by the copper-chelating agent trientine dihydrochloride Hepatology 23 1996 764 770
90. E. Sozeri D. Feist H. Ruder Proteinuria and other renal functions in Wilson's disease Pediatr Nephrol 11 1997 307 311
91. I. Sternlieb A.G. Morell C.D. Bauer Detection of the heterozygous carrier of the Wilson's disease gene J Clin Invest 40 1961 707 715
92. I. Sternlieb I.H. Scheinberg The role of radiocopper in the diagnosis of Wilson's disease Gastroenterology 77 1979 138 142
93. E.A. Stewart A. White J. Tomfohrde Polymorphic microsatellites and Wilson disease (WD) Am J Hum Genet 53 1993 864 873
94. F.W. Stromeyer K.G. Ishak Histology of the liver in Wilson's disease: A study of 34 cases Am J Clin Pathol 73 1980 12 24
95. M. Suzuki T. Aoki Impaired hepatic copper homeostasis in Long-Evans Cinnamon rats: Reduced biliary excretion of copper Pediatr Res 35 1994 598 601
96. R.E. Tanzi K. Petrukhin I. Chernov The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene Nat Genet 5 1993 344 350
97. J. Tauber R.F. Steinert Pseudo-Kayser-Fleischer ring of the cornea associated with non-Wilsonian liver disease: A case report and literature review Cornea 12 1993 74 77
98. M.B. Theophilos D.W. Cox J.F. Mercer The toxic milk mouse is a murine model of Wilson disease Hum Mol Genet 5 1996 1619 1624
99. G.R. Thomas J.R. Forbes E.A. Roberts The Wilson disease gene: Spectrum of mutations and their consequences Nat Genet 9 1995 210 217
100. J.S. Valentine E.B. Gralla Biochemistry—delivering copper inside yeast and human cells Science 278 1997 817 818
101. C. Vulpe B. Levinson S. Whitney Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase Nat Genet 3 1993 7 13
102. E. Waldenstrom A. Lagerkvist T. Dahlman Efficient detection of mutations in Wilson disease by manifold sequencing Genomics 37 1996 303 309
103. B.N. Walia S. Singh R.K. Marwaha Fulminant hepatic failure and acute intravascular haemolysis as presenting manifestations of Wilson's disease in young children J Gastroenterol Hepatol 7 1992 370 373
104. J.M. Walshe Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride Lancet 1 1982 643 647
105. J.M. Walshe Copper: Its role in the pathogenesis of liver disease Semin Liver Dis 4 1984 252 263
106. J.M. Walshe The management of pregnancy in Wilson's disease treated with trientine QJM 58 1986 81 87
107. J.M. Walshe Diagnosis and treatment of presymptomatic Wilson's disease Lancet 2 1988 435 437
108. J.M. Walshe Wilson's disease presenting with features of hepatic dysfunction: A clinical analysis of eighty-seven patients QJM 70 1989 253 263
109. J.M. Walshe M. Yealland Wilson's disease: The problem of delayed diagnosis J Neurol Neurosurg Psychiatry 55 1992 692 696
110. J.M. Walshe M. Yealland Chelation treatment of neurological Wilson's disease QJM 86 1993 197 204
111. R.A. Willson K.J. Clayson S. Leon Unmeasurable serum alkaline phosphatase activity in Wilson's disease associated with fulminant hepatic failure and hemolysis Hepatology 7 1987 613 615
112. J. Wu J.R. Forbes H.S. Chen The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene Nat Genet 7 1994 541 545
113. Xie Y-z Zhang X-z Xu X-h Radiologic study of 42 cases of Wilson disease Skeletal Radiol 13 1985 114 119
114. T. Yamada T. Agui Y. Suzuki Inhibition of the copper incorporation into ceruloplasmin leads to the deficiency in serum ceruloplasmin activity in Long-Evans Cinnamon mutant rats J Biol Chem 268 1993 8965 8971
115. Y. Yamaguchi M.E. Heiny N. Shimizu Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat Biochem J 301 1994 1 4
116. Y. Yamaguchi M.E. Heiny M. Suzuki Biochemical characterization and intracellular localization of the Menkes disease protein Proc Natl Acad Sci U S A 93 1996 14030 14035
117. K. Yoshida K. Furihata S. Takeda A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans Nat Genet 9 1995 267 272
118. V. Yuzbasiyan-Gurkan V. Johnson G.J. Brewer Diagnosis and characterization of presymptomatic patients with Wilson's disease and the use of molecular genetics to aid in the diagnosis J Lab Clin Med 118 1991 458 465
119. G. Zandman-Goddard P. Weiss B. Avidan Acute varicella infection heralding Wilsonian crisis J Clin Gastroenterol 18 1994 265 266
120. B. Zhou J. Gitschier hCTR1: A human gene for copper uptake identified by complementation in yeast Proc Natl Acad Sci U S A 94 1997 7481 7486
121. S.D. Zucker J.L. Gollan Wilson's disease and hepatic toxicosis Zakim D. Boyer T.D. Hepatology: A Textbook of Liver Disease 1996 WB Saunders Philadelphia 1405 1439