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Published in: Translational Neurodegeneration 1/2012

Open Access 01-12-2012 | Review

Advance in the pathogenesis and treatment of Wilson disease

Authors: Qin-Yun Dong, Zhi-Ying Wu

Published in: Translational Neurodegeneration | Issue 1/2012

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Abstract

Wilson disease is an autosomal recessive disorder of copper metabolism. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Genetic analysis for mutations within ATP7B is a convincing diagnostic tool. The traditional treatment for WD includes chelation of excessive copper accumulation and reduction of copper intake. Medical therapy is effective but WD is not yet curable. Liver transplantation is especially helpful for patients who fail to respond to medical therapy or present with fulminant liver failure, although evaluation of its long-term effect are still in need.
Literature
1.
go back to reference Huster D: Wilson disease. Best Pract Res Cl Ga 2010, 24(5):531-539. 10.1016/j.bpg.2010.07.014CrossRef Huster D: Wilson disease. Best Pract Res Cl Ga 2010, 24(5):531-539. 10.1016/j.bpg.2010.07.014CrossRef
2.
go back to reference Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F: Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003, 23(3):139-142. 10.1034/j.1600-0676.2003.00824.xCrossRefPubMed Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F: Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003, 23(3):139-142. 10.1034/j.1600-0676.2003.00824.xCrossRefPubMed
3.
go back to reference Gitlin N: Wilson's disease: the scourge of copper. J Hepatol 1998, 28(4):734-739. 10.1016/S0168-8278(98)80302-4CrossRefPubMed Gitlin N: Wilson's disease: the scourge of copper. J Hepatol 1998, 28(4):734-739. 10.1016/S0168-8278(98)80302-4CrossRefPubMed
4.
go back to reference Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 1993, 3(1):7-13. 10.1038/ng0193-7CrossRefPubMed Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 1993, 3(1):7-13. 10.1038/ng0193-7CrossRefPubMed
5.
go back to reference Valentine JS, Gralla EB: Biochemistry - delivering copper inside yeast and human cells. Science 1997, 278(5339):817-818. 10.1126/science.278.5339.817CrossRefPubMed Valentine JS, Gralla EB: Biochemistry - delivering copper inside yeast and human cells. Science 1997, 278(5339):817-818. 10.1126/science.278.5339.817CrossRefPubMed
6.
go back to reference Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4):327-337. 10.1038/ng1293-327CrossRefPubMed Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4):327-337. 10.1038/ng1293-327CrossRefPubMed
7.
go back to reference Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.: The Wilson disease gene is a copper transporting atpase with homology to the Menkes disease gene. Nat Genet 1993, 5(4):344-350. 10.1038/ng1293-344CrossRefPubMed Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.: The Wilson disease gene is a copper transporting atpase with homology to the Menkes disease gene. Nat Genet 1993, 5(4):344-350. 10.1038/ng1293-344CrossRefPubMed
8.
go back to reference Hsi G, Cullen LA, Macintyre G, Chen MM, Glerum DM, Cox DW: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hum Mutat 2008, 29(4):491-501. 10.1002/humu.20674CrossRefPubMed Hsi G, Cullen LA, Macintyre G, Chen MM, Glerum DM, Cox DW: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hum Mutat 2008, 29(4):491-501. 10.1002/humu.20674CrossRefPubMed
9.
go back to reference Forbes JR, Cox DW: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000, 9(13):1927-1935. 10.1093/hmg/9.13.1927CrossRefPubMed Forbes JR, Cox DW: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000, 9(13):1927-1935. 10.1093/hmg/9.13.1927CrossRefPubMed
10.
go back to reference Huster D, Kuhne A, Bhattacharjee A, Raines L, Jantsch V, Noe J, Schirrmeister W, Sommerer I, Sabri O, Berr F, et al.: Diverse functional properties of Wilson disease ATP7b variants. Gastroenterol 2012, 142(4):429-947.CrossRef Huster D, Kuhne A, Bhattacharjee A, Raines L, Jantsch V, Noe J, Schirrmeister W, Sommerer I, Sabri O, Berr F, et al.: Diverse functional properties of Wilson disease ATP7b variants. Gastroenterol 2012, 142(4):429-947.CrossRef
11.
go back to reference van den Berghe P, Stapelbroek JM, Krieger E, de Bie P, van de Graaf S, de Groot R, van Beurden E, Houwen R, Berger R, Klomp L: Reduced expression of atp7b affected by wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. Hepatol 2009, 50(6):1783-1795. 10.1002/hep.23209CrossRef van den Berghe P, Stapelbroek JM, Krieger E, de Bie P, van de Graaf S, de Groot R, van Beurden E, Houwen R, Berger R, Klomp L: Reduced expression of atp7b affected by wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. Hepatol 2009, 50(6):1783-1795. 10.1002/hep.23209CrossRef
12.
go back to reference Zischka H, Lichtmannegger J, Schmitt S, Jagemann N, Schulz S, Wartini D, Jennen L, Rust C, Larochette N, Galluzzi L, et al.: Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J Clin Invest 2011, 121(4):1508-1518. 10.1172/JCI45401PubMedCentralCrossRefPubMed Zischka H, Lichtmannegger J, Schmitt S, Jagemann N, Schulz S, Wartini D, Jennen L, Rust C, Larochette N, Galluzzi L, et al.: Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J Clin Invest 2011, 121(4):1508-1518. 10.1172/JCI45401PubMedCentralCrossRefPubMed
13.
go back to reference Sauer SW, Merle U, Opp S, Haas D, Hoffmann GF, Stremmel W, Okun JG: Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(−/−) mice as a model for Wilson disease. Bba-Mol Basis Dis 2011, 1812(12):1607-1615. 10.1016/j.bbadis.2011.08.011CrossRef Sauer SW, Merle U, Opp S, Haas D, Hoffmann GF, Stremmel W, Okun JG: Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(−/−) mice as a model for Wilson disease. Bba-Mol Basis Dis 2011, 1812(12):1607-1615. 10.1016/j.bbadis.2011.08.011CrossRef
14.
go back to reference Koopman W, Nijtmans L, Dieteren C, Roestenberg P, Valsecchi F, Smeitink J, Willems P: Mammalian mitochondrial complex i: biogenesis, regulation, and reactive oxygen species generation. Antioxid Redox Signal 2010, 12(12):1431-1470. 10.1089/ars.2009.2743CrossRefPubMed Koopman W, Nijtmans L, Dieteren C, Roestenberg P, Valsecchi F, Smeitink J, Willems P: Mammalian mitochondrial complex i: biogenesis, regulation, and reactive oxygen species generation. Antioxid Redox Signal 2010, 12(12):1431-1470. 10.1089/ars.2009.2743CrossRefPubMed
15.
go back to reference Yurkova IL, Arnhold J, Fitzl G, Huster D: Fragmentation of mitochondrial cardiolipin by copper ions in the Atp7b(−/−) mouse model of Wilson's disease. Chem Phys Lipids 2011, 164(5):393-400. 10.1016/j.chemphyslip.2011.05.006CrossRefPubMed Yurkova IL, Arnhold J, Fitzl G, Huster D: Fragmentation of mitochondrial cardiolipin by copper ions in the Atp7b(−/−) mouse model of Wilson's disease. Chem Phys Lipids 2011, 164(5):393-400. 10.1016/j.chemphyslip.2011.05.006CrossRefPubMed
16.
go back to reference Strand S, Hofmann WJ, Grambihler A, Hug H, Volkmann M, Otto G, Wesch H, Mariani SM, Hack V, Stremmel W, et al.: Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis. Nat Med 1998, 4(5):588-593. 10.1038/nm0598-588CrossRefPubMed Strand S, Hofmann WJ, Grambihler A, Hug H, Volkmann M, Otto G, Wesch H, Mariani SM, Hack V, Stremmel W, et al.: Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis. Nat Med 1998, 4(5):588-593. 10.1038/nm0598-588CrossRefPubMed
17.
go back to reference Wolfe JT, Ross D, Cohen GM: A role for metals and free-radicals in the induction of apoptosis in thymocytes. FEBS Lett 1994, 352(1):58-62. 10.1016/0014-5793(94)00920-1CrossRefPubMed Wolfe JT, Ross D, Cohen GM: A role for metals and free-radicals in the induction of apoptosis in thymocytes. FEBS Lett 1994, 352(1):58-62. 10.1016/0014-5793(94)00920-1CrossRefPubMed
18.
go back to reference Paris I, Perez-Pastene C, Couve E, Caviedes P, LeDoux S, Segura-Aguilar J: Copper center dot dopamine complex induces mitochondrial autophagy preceding caspase-independent apoptotic cell death. J Biol Chem 2009, 284(20):13306-13315. 10.1074/jbc.M900323200PubMedCentralCrossRefPubMed Paris I, Perez-Pastene C, Couve E, Caviedes P, LeDoux S, Segura-Aguilar J: Copper center dot dopamine complex induces mitochondrial autophagy preceding caspase-independent apoptotic cell death. J Biol Chem 2009, 284(20):13306-13315. 10.1074/jbc.M900323200PubMedCentralCrossRefPubMed
19.
go back to reference van de Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C: Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 2002, 11(2):165-173. 10.1093/hmg/11.2.165CrossRefPubMed van de Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C: Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 2002, 11(2):165-173. 10.1093/hmg/11.2.165CrossRefPubMed
20.
go back to reference de Bie P, van de Sluis B, Burstein E, van den Berghe PVE, Muller P, Berger R, Gitlin JD, Wijmenga C, Klomp LWJ: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterol 2007, 133(4):1316-1326. 10.1053/j.gastro.2007.07.020CrossRef de Bie P, van de Sluis B, Burstein E, van den Berghe PVE, Muller P, Berger R, Gitlin JD, Wijmenga C, Klomp LWJ: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterol 2007, 133(4):1316-1326. 10.1053/j.gastro.2007.07.020CrossRef
21.
go back to reference Materia S, Cater MA, Klomp L, Mercer J, La Fontaine S: Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases Atp7A nd Atp7B. J Biol Chem 2012, 287(4):2485-2499. 10.1074/jbc.M111.302216PubMedCentralCrossRefPubMed Materia S, Cater MA, Klomp L, Mercer J, La Fontaine S: Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases Atp7A nd Atp7B. J Biol Chem 2012, 287(4):2485-2499. 10.1074/jbc.M111.302216PubMedCentralCrossRefPubMed
22.
go back to reference Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT, Murong SX, Yu L: Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med-Jmm 2006, 84(5):438-442. 10.1007/s00109-005-0036-yCrossRef Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT, Murong SX, Yu L: Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med-Jmm 2006, 84(5):438-442. 10.1007/s00109-005-0036-yCrossRef
23.
go back to reference Mufti AR, Burstein E, Csomos RA, Graf P, Wilkinson JC, Dick RD, Challa M, Son JK, Bratton SB, Su GL, et al.: XIAP is a copper binding protein dereaulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 2006, 21(6):775-785. 10.1016/j.molcel.2006.01.033CrossRefPubMed Mufti AR, Burstein E, Csomos RA, Graf P, Wilkinson JC, Dick RD, Challa M, Son JK, Bratton SB, Su GL, et al.: XIAP is a copper binding protein dereaulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 2006, 21(6):775-785. 10.1016/j.molcel.2006.01.033CrossRefPubMed
24.
go back to reference Mufti AR, Burstein E, Duckett CS: XIAP: cell death regulation meets copper homeostasis. Arch Biochem Biophys 2007, 463(2):168-174. 10.1016/j.abb.2007.01.033PubMedCentralCrossRefPubMed Mufti AR, Burstein E, Duckett CS: XIAP: cell death regulation meets copper homeostasis. Arch Biochem Biophys 2007, 463(2):168-174. 10.1016/j.abb.2007.01.033PubMedCentralCrossRefPubMed
25.
go back to reference Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, et al.: Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. Hum Mutat 2012, 33(8):1207-1215. 10.1002/humu.22099PubMedCentralCrossRefPubMed Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, et al.: Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. Hum Mutat 2012, 33(8):1207-1215. 10.1002/humu.22099PubMedCentralCrossRefPubMed
26.
go back to reference Wu ZY, Lin MT, Murong SX, Wang N: Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. Arch Neurol-Chicago 2003, 60(5):737-741. 10.1001/archneur.60.5.737CrossRefPubMed Wu ZY, Lin MT, Murong SX, Wang N: Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. Arch Neurol-Chicago 2003, 60(5):737-741. 10.1001/archneur.60.5.737CrossRefPubMed
27.
go back to reference Ferenci P, Czlonkowska A, Stremmel W, Houwen R, Rosenberg W, Schilsky M, Jansen P, Moradpour D, Gitlin J: EASL clinical practice guidelines: Wilson's disease. J Hepatol 2012, 56(3):671-685.CrossRef Ferenci P, Czlonkowska A, Stremmel W, Houwen R, Rosenberg W, Schilsky M, Jansen P, Moradpour D, Gitlin J: EASL clinical practice guidelines: Wilson's disease. J Hepatol 2012, 56(3):671-685.CrossRef
28.
go back to reference Brewer GJ: Novel therapeutic approaches to the treatment of Wilson's disease. Expert Opin Pharmocother 2006, 7(3):317-324. 10.1517/14656566.7.3.317CrossRef Brewer GJ: Novel therapeutic approaches to the treatment of Wilson's disease. Expert Opin Pharmocother 2006, 7(3):317-324. 10.1517/14656566.7.3.317CrossRef
29.
go back to reference Brewer GJ, Askari F, Dick RB, Sitterly J, Fink JK, Carlson M, Kluin KJ, Lorincz MT: Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res 2009, 154(2):70-77. 10.1016/j.trsl.2009.05.002CrossRefPubMed Brewer GJ, Askari F, Dick RB, Sitterly J, Fink JK, Carlson M, Kluin KJ, Lorincz MT: Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res 2009, 154(2):70-77. 10.1016/j.trsl.2009.05.002CrossRefPubMed
30.
go back to reference McArdle HJ, Kyriakou P, Grimes A, Mercer JF, Danks DM: The effect of D-penicillamine on metallothionein mRNA levels and copper distribution in mouse hepatocytes. Chem Biol Interact 1990, 75(3):315-324. 10.1016/0009-2797(90)90074-WCrossRefPubMed McArdle HJ, Kyriakou P, Grimes A, Mercer JF, Danks DM: The effect of D-penicillamine on metallothionein mRNA levels and copper distribution in mouse hepatocytes. Chem Biol Interact 1990, 75(3):315-324. 10.1016/0009-2797(90)90074-WCrossRefPubMed
31.
go back to reference Balamurugan K, Schaffner W: Copper homeostasis in eukaryotes: teetering on a tightrope. Bba-Mol Cell Res 2006, 1763(7):737-746. Balamurugan K, Schaffner W: Copper homeostasis in eukaryotes: teetering on a tightrope. Bba-Mol Cell Res 2006, 1763(7):737-746.
32.
go back to reference Xu H, Nakagawa A, Aoyama Y: Suppressive effects of dietary D-penicillamine on the gene expression of hepatic metallothionein-1 and protein level of hepatic metallothionein in Long-Evans Cinnamon rats. Nutr Res 2004, 24(11):935-944. 10.1016/j.nutres.2004.04.007CrossRef Xu H, Nakagawa A, Aoyama Y: Suppressive effects of dietary D-penicillamine on the gene expression of hepatic metallothionein-1 and protein level of hepatic metallothionein in Long-Evans Cinnamon rats. Nutr Res 2004, 24(11):935-944. 10.1016/j.nutres.2004.04.007CrossRef
33.
34.
go back to reference Brewer GJ: Penicillamine should not be used as initial therapy in Wilson's disease. Movement Disord 1999, 14(4):551-554. 10.1002/1531-8257(199907)14:4<551::AID-MDS1002>3.0.CO;2-SCrossRefPubMed Brewer GJ: Penicillamine should not be used as initial therapy in Wilson's disease. Movement Disord 1999, 14(4):551-554. 10.1002/1531-8257(199907)14:4<551::AID-MDS1002>3.0.CO;2-SCrossRefPubMed
35.
go back to reference Walshe JM: Penicillamine: the treatment of first choice for patients with Wilson's disease. Movement Disord 1999, 14(4):545-550. 10.1002/1531-8257(199907)14:4<545::AID-MDS1001>3.0.CO;2-UCrossRefPubMed Walshe JM: Penicillamine: the treatment of first choice for patients with Wilson's disease. Movement Disord 1999, 14(4):545-550. 10.1002/1531-8257(199907)14:4<545::AID-MDS1001>3.0.CO;2-UCrossRefPubMed
36.
go back to reference Sternlieb I, Scheinberg IH: Prophylaxis of Wilson's disease. N Engl J Med 1968, 278(20):1125.PubMed Sternlieb I, Scheinberg IH: Prophylaxis of Wilson's disease. N Engl J Med 1968, 278(20):1125.PubMed
37.
go back to reference Bienaime F, Clerbaux G, Plaisier E, Mougenot B, Ronco P, Rougier J: D-penicillamine-induced ANCA-associated crescentic glomerulonephritis in Wilson disease. Am J Kidney Dis 2007, 50(5):821-825. 10.1053/j.ajkd.2007.05.026CrossRefPubMed Bienaime F, Clerbaux G, Plaisier E, Mougenot B, Ronco P, Rougier J: D-penicillamine-induced ANCA-associated crescentic glomerulonephritis in Wilson disease. Am J Kidney Dis 2007, 50(5):821-825. 10.1053/j.ajkd.2007.05.026CrossRefPubMed
38.
go back to reference Becuwe C, Dalle S, Ronger-Savle S, Skowron F, Balme B, Kanitakis J, Thomas L: Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine. Dermatol 2005, 210(1):60-63. 10.1159/000081487CrossRef Becuwe C, Dalle S, Ronger-Savle S, Skowron F, Balme B, Kanitakis J, Thomas L: Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine. Dermatol 2005, 210(1):60-63. 10.1159/000081487CrossRef
39.
go back to reference Wiggelinkhuizen M, Tilanus M, Bollen CW, Houwen R: Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Aliment Pharm Therap 2009, 29(9):947-958. 10.1111/j.1365-2036.2009.03959.xCrossRef Wiggelinkhuizen M, Tilanus M, Bollen CW, Houwen R: Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Aliment Pharm Therap 2009, 29(9):947-958. 10.1111/j.1365-2036.2009.03959.xCrossRef
40.
go back to reference Taylor RM, Chen Y, Dhawan A: Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King's College Hospital and review of the literature. Eur J Pediatr 2009, 168(9):1061-1068. 10.1007/s00431-008-0886-8CrossRefPubMed Taylor RM, Chen Y, Dhawan A: Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King's College Hospital and review of the literature. Eur J Pediatr 2009, 168(9):1061-1068. 10.1007/s00431-008-0886-8CrossRefPubMed
41.
go back to reference Benbir G, Gunduz A, Ertan S, Ozkara C: Partial status epilepticus induced by hypocupremia in a patient with Wilson's disease. Seizure-Eur J Epilep 2010, 19(9):602-604.CrossRef Benbir G, Gunduz A, Ertan S, Ozkara C: Partial status epilepticus induced by hypocupremia in a patient with Wilson's disease. Seizure-Eur J Epilep 2010, 19(9):602-604.CrossRef
42.
go back to reference Chen DB, Feng L, Lin XP, Zhang W, Li FR, Liang XL, Li XH: Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice. PLoS One 2012., 7(5): e377095 Chen DB, Feng L, Lin XP, Zhang W, Li FR, Liang XL, Li XH: Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice. PLoS One 2012., 7(5): e377095
43.
go back to reference Ping CC, Hassan Y, Aziz NA, Ghazali R, Awaisu A: Discontinuation of penicillamine in the absence of alternative orphan drugs (trientine-zinc): a case of decompensated liver cirrhosis in Wilson's disease. J Clin Pharm Ther 2007, 32(1):101-107. 10.1111/j.1365-2710.2007.00794.xCrossRefPubMed Ping CC, Hassan Y, Aziz NA, Ghazali R, Awaisu A: Discontinuation of penicillamine in the absence of alternative orphan drugs (trientine-zinc): a case of decompensated liver cirrhosis in Wilson's disease. J Clin Pharm Ther 2007, 32(1):101-107. 10.1111/j.1365-2710.2007.00794.xCrossRefPubMed
44.
go back to reference Walshe JM: Treatment of wilsons-disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982, 1(8273):643-647.CrossRefPubMed Walshe JM: Treatment of wilsons-disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982, 1(8273):643-647.CrossRefPubMed
45.
go back to reference Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink MK, Tankanow R, 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-Chicago 2006, 63(4):521-527. 10.1001/archneur.63.4.521CrossRefPubMed Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink MK, Tankanow R, 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-Chicago 2006, 63(4):521-527. 10.1001/archneur.63.4.521CrossRefPubMed
46.
go back to reference Weiss KH, Schots M, Gotthardt DN, Ferenci-Foerster D, Maieron A, Stauber R, Reuner U, Houwen R, Stremmel W, Ferenci P: Efficacy and safety of D-penicillamine and trientine for the treatment of Wilson disease. J Hepatol 2011, 541: S1.CrossRef Weiss KH, Schots M, Gotthardt DN, Ferenci-Foerster D, Maieron A, Stauber R, Reuner U, Houwen R, Stremmel W, Ferenci P: Efficacy and safety of D-penicillamine and trientine for the treatment of Wilson disease. J Hepatol 2011, 541: S1.CrossRef
47.
go back to reference Weiss KH, Gotthardt DN, 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. Gastroenterol 2011, 140(4):1189. 10.1053/j.gastro.2010.12.034CrossRef Weiss KH, Gotthardt DN, 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. Gastroenterol 2011, 140(4):1189. 10.1053/j.gastro.2010.12.034CrossRef
48.
go back to reference Askari FK, Greenson J, Dick RD, Johnson VD, Brewer GJ: Treatment of Wilson's disease with zinc. XVIII. Initial treatment of the hepatic decompensation presentation with trientine and zinc. J Lab Clin Med 2003, 142(6):385-390. 10.1016/S0022-2143(03)00157-4CrossRefPubMed Askari FK, Greenson J, Dick RD, Johnson VD, Brewer GJ: Treatment of Wilson's disease with zinc. XVIII. Initial treatment of the hepatic decompensation presentation with trientine and zinc. J Lab Clin Med 2003, 142(6):385-390. 10.1016/S0022-2143(03)00157-4CrossRefPubMed
49.
go back to reference Brewer GJ, Dick RD, Johnson VD, 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(4):264-278. 10.1016/S0022-2143(98)90039-7CrossRefPubMed Brewer GJ, Dick RD, Johnson VD, 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(4):264-278. 10.1016/S0022-2143(98)90039-7CrossRefPubMed
50.
go back to reference Bruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, Nevoral J, Petrtyl J, Urbanek P, Jiraskova A, et al.: 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.xCrossRefPubMed Bruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, Nevoral J, Petrtyl J, Urbanek P, Jiraskova A, et al.: 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.xCrossRefPubMed
51.
go back to reference Mills CF, Elgallad TT, Bremner I: Effects of molybdate, sulfide, and tetrathiomolybdate on copper-metabolism in rats. J Inorg Biochem 1981, 14(3):189-207. 10.1016/S0162-0134(00)80000-8CrossRefPubMed Mills CF, Elgallad TT, Bremner I: Effects of molybdate, sulfide, and tetrathiomolybdate on copper-metabolism in rats. J Inorg Biochem 1981, 14(3):189-207. 10.1016/S0162-0134(00)80000-8CrossRefPubMed
52.
go back to reference Mills CF, Elgallad TT, Bremner I, Wenham G: copper and molybdenum absorption by rats given ammonium tetrathiomolybdate. J Inorg Biochem 1981, 14(2):163-175. 10.1016/S0162-0134(00)80037-9CrossRefPubMed Mills CF, Elgallad TT, Bremner I, Wenham G: copper and molybdenum absorption by rats given ammonium tetrathiomolybdate. J Inorg Biochem 1981, 14(2):163-175. 10.1016/S0162-0134(00)80037-9CrossRefPubMed
53.
go back to reference Brewer GJ, Hedera P, Kluin KJ, Carlson M, Askari F, Dick RB, Sitterly J, Fink JK: 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-Chicago 2003, 60(3):379-385. 10.1001/archneur.60.3.379CrossRefPubMed Brewer GJ, Hedera P, Kluin KJ, Carlson M, Askari F, Dick RB, Sitterly J, Fink JK: 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-Chicago 2003, 60(3):379-385. 10.1001/archneur.60.3.379CrossRefPubMed
54.
go back to reference Lorincz MT: Neurologic Wilson's disease. In Annals of the New York Academy of Sciences. Volume 1184. Edited by: Johnson RT. Malden, MA USA: Wiley-Blackwell; 2010:173-187. Lorincz MT: Neurologic Wilson's disease. In Annals of the New York Academy of Sciences. Volume 1184. Edited by: Johnson RT. Malden, MA USA: Wiley-Blackwell; 2010:173-187.
55.
go back to reference Holscher S, Leinweber B, Hefter H, Reuner U, Gunther P, Weiss KH, Oertel WH, Moller JC: Evaluation of the symptomatic treatment of residual neurological symptoms in Wilson disease. Eur Neurol 2010, 64(2):83-87. 10.1159/000316066CrossRefPubMed Holscher S, Leinweber B, Hefter H, Reuner U, Gunther P, Weiss KH, Oertel WH, Moller JC: Evaluation of the symptomatic treatment of residual neurological symptoms in Wilson disease. Eur Neurol 2010, 64(2):83-87. 10.1159/000316066CrossRefPubMed
56.
go back to reference Micheli F, Tschopp L, Cersosimo MG: Oxcarbazepine-responsive paroxysmal kinesigenic dyskinesia in Wilson disease. Clin Neuropharmacol 2011, 34(6):262-264. 10.1097/WNF.0b013e3182348964CrossRefPubMed Micheli F, Tschopp L, Cersosimo MG: Oxcarbazepine-responsive paroxysmal kinesigenic dyskinesia in Wilson disease. Clin Neuropharmacol 2011, 34(6):262-264. 10.1097/WNF.0b013e3182348964CrossRefPubMed
57.
go back to reference De Fabregues O, Palasi A, Callen A, Hernandez-Vara J, Alvarez-Sabin J: Successful treatment of Wilson's disease dystonia with botulinum toxin. Movement Disord 2010, 25S(7):S234. De Fabregues O, Palasi A, Callen A, Hernandez-Vara J, Alvarez-Sabin J: Successful treatment of Wilson's disease dystonia with botulinum toxin. Movement Disord 2010, 25S(7):S234.
58.
go back to reference Paliwal VK, Gupta PK, Pradhan S: Gabapentin as a rescue drug in D-penicillamine-induced status dystonicus in patients with Wilson disease. Neurol India 2010, 58(5):761-763. 10.4103/0028-3886.72184CrossRefPubMed Paliwal VK, Gupta PK, Pradhan S: Gabapentin as a rescue drug in D-penicillamine-induced status dystonicus in patients with Wilson disease. Neurol India 2010, 58(5):761-763. 10.4103/0028-3886.72184CrossRefPubMed
59.
go back to reference Yang RM, Chen N: The outcomes and followup of intergrated therapy of traditional Chinese medicine and chelation agents in 198 patients. Chin J Integr Med 2002, 22(9):657-659. article in Chinese Yang RM, Chen N: The outcomes and followup of intergrated therapy of traditional Chinese medicine and chelation agents in 198 patients. Chin J Integr Med 2002, 22(9):657-659. article in Chinese
60.
go back to reference Wang Y, Xie CL, Fu DL, Lu L, Lin Y, Dong QQ, Wang XT, Zheng GQ: Clinical efficacy and safety of Chinese herbal medicine for Wilson's disease: a systematic review of 9 randomized controlled trials. Complement Ther Med 2012, 20(3):143-154. 10.1016/j.ctim.2011.12.004CrossRefPubMed Wang Y, Xie CL, Fu DL, Lu L, Lin Y, Dong QQ, Wang XT, Zheng GQ: Clinical efficacy and safety of Chinese herbal medicine for Wilson's disease: a systematic review of 9 randomized controlled trials. Complement Ther Med 2012, 20(3):143-154. 10.1016/j.ctim.2011.12.004CrossRefPubMed
61.
go back to reference Sen S, Felldin M, Steiner C, Larsson B, Gillett GT, Olausson M, Williams R, Jalan R: Albumin dialysis and Molecular Adsorbents Recirculating System (MARS) for acute Wilson's disease. Liver Transpl 2002, 8(10):962-967. 10.1053/jlts.2002.35546CrossRefPubMed Sen S, Felldin M, Steiner C, Larsson B, Gillett GT, Olausson M, Williams R, Jalan R: Albumin dialysis and Molecular Adsorbents Recirculating System (MARS) for acute Wilson's disease. Liver Transpl 2002, 8(10):962-967. 10.1053/jlts.2002.35546CrossRefPubMed
62.
go back to reference Arnon R, Annunziato R, Schilsky M, Miloh T, Willis A, Sturdevant M, Sakworawich A, Suchy F, Kerkar N: Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults. Clin Transplant 2011, 25(1):E52-E60. 10.1111/j.1399-0012.2010.01327.xCrossRefPubMed Arnon R, Annunziato R, Schilsky M, Miloh T, Willis A, Sturdevant M, Sakworawich A, Suchy F, Kerkar N: Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults. Clin Transplant 2011, 25(1):E52-E60. 10.1111/j.1399-0012.2010.01327.xCrossRefPubMed
63.
go back to reference Ozcay F, Bayrakci US, Baskin E, Sakalli H, Canan O, Karakayali H, Haberal M: Long term follow-up of glomerular and tubular functions in liver transplanted patients with Wilson's disease. Pediatr Transplant 2008, 12(7):785-789. 10.1111/j.1399-3046.2008.00919.xCrossRefPubMed Ozcay F, Bayrakci US, Baskin E, Sakalli H, Canan O, Karakayali H, Haberal M: Long term follow-up of glomerular and tubular functions in liver transplanted patients with Wilson's disease. Pediatr Transplant 2008, 12(7):785-789. 10.1111/j.1399-3046.2008.00919.xCrossRefPubMed
64.
go back to reference Narumi S, Umehara M, Toyoki Y, Ishido K, Kudo D, Kimura N, Kobayashi T, Sugai M, Hakamada K: Liver transplantation for wilson's disease in pediatric patients: decision making and timing. Transplant P 2012, 44(2):478-480. 10.1016/j.transproceed.2012.01.024CrossRef Narumi S, Umehara M, Toyoki Y, Ishido K, Kudo D, Kimura N, Kobayashi T, Sugai M, Hakamada K: Liver transplantation for wilson's disease in pediatric patients: decision making and timing. Transplant P 2012, 44(2):478-480. 10.1016/j.transproceed.2012.01.024CrossRef
65.
go back to reference Murray KF, Carithers RL: AASLD practice guidelines: evaluation of the patient for liver transplantation. Hepatol 2005, 41(6):1407-1432. 10.1002/hep.20704CrossRef Murray KF, Carithers RL: AASLD practice guidelines: evaluation of the patient for liver transplantation. Hepatol 2005, 41(6):1407-1432. 10.1002/hep.20704CrossRef
66.
go back to reference Hermann W, Eggers B, Wagner A: The indication for liver transplant to improve neurological symptoms in a patient with Wilson's disease. J Neurol 2002, 249(12):1733-1734. 10.1007/s00415-002-0867-1CrossRefPubMed Hermann W, Eggers B, Wagner A: The indication for liver transplant to improve neurological symptoms in a patient with Wilson's disease. J Neurol 2002, 249(12):1733-1734. 10.1007/s00415-002-0867-1CrossRefPubMed
67.
go back to reference Geissler I, Heinemann K, Rohm S, Hauss J, Lamesch P: Liver transplantation for hepatic and neurological Wilson's disease. Transplant P 2003, 35(4):1445-1446. 10.1016/S0041-1345(03)00464-0CrossRef Geissler I, Heinemann K, Rohm S, Hauss J, Lamesch P: Liver transplantation for hepatic and neurological Wilson's disease. Transplant P 2003, 35(4):1445-1446. 10.1016/S0041-1345(03)00464-0CrossRef
68.
go back to reference Suzuki S, Sato Y, Ichida T, Hatakeyama K: Recovery of severe neurologic manifestations of Wilson's disease after living-related liver transplantation: a case report. Transplant P 2003, 35(1):385-386. 10.1016/S0041-1345(02)03855-1CrossRef Suzuki S, Sato Y, Ichida T, Hatakeyama K: Recovery of severe neurologic manifestations of Wilson's disease after living-related liver transplantation: a case report. Transplant P 2003, 35(1):385-386. 10.1016/S0041-1345(02)03855-1CrossRef
69.
go back to reference Stracciari A, Tempestini A, Borghi A, Guarino M: Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol-Chicago 2000, 57(3):384-386. 10.1001/archneur.57.3.384CrossRefPubMed Stracciari A, Tempestini A, Borghi A, Guarino M: Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol-Chicago 2000, 57(3):384-386. 10.1001/archneur.57.3.384CrossRefPubMed
70.
go back to reference Suess T, Bokemeyer M, Schomerus G, Donnerstag F, Manns MP, Klempnauer J, Kolbe H, Weissenborn K: Video documented follow-up of liver transplantation in Wilson's disease with predominant neurological manifestation. Movement Disord 2007, 22(7):1036-1038. 10.1002/mds.21444CrossRefPubMed Suess T, Bokemeyer M, Schomerus G, Donnerstag F, Manns MP, Klempnauer J, Kolbe H, Weissenborn K: Video documented follow-up of liver transplantation in Wilson's disease with predominant neurological manifestation. Movement Disord 2007, 22(7):1036-1038. 10.1002/mds.21444CrossRefPubMed
71.
go back to reference Schilsky ML, Scheinberg IH, Sternlieb I: Liver-transplantation for wilsons-disease - indications and outcome. Hepatology 1994, 19(3):583-587. 10.1002/hep.1840190307CrossRefPubMed Schilsky ML, Scheinberg IH, Sternlieb I: Liver-transplantation for wilsons-disease - indications and outcome. Hepatology 1994, 19(3):583-587. 10.1002/hep.1840190307CrossRefPubMed
72.
go back to reference Erol I, Alehan F, Ozcay F, Canan O, Haberal M: Neurological complications of liver transplantation in pediatric patients: a single center experience. Pediatr Transplant 2007, 11(2):152-159. 10.1111/j.1399-3046.2006.00620.xCrossRefPubMed Erol I, Alehan F, Ozcay F, Canan O, Haberal M: Neurological complications of liver transplantation in pediatric patients: a single center experience. Pediatr Transplant 2007, 11(2):152-159. 10.1111/j.1399-3046.2006.00620.xCrossRefPubMed
73.
go back to reference Enrol I, Alehan F, Ozcay F, Canan O, Haberal M: Neurologic complications of liver transplantation in pediatric patients with the hepatic form of Wilson's disease. J Child Neurol 2008, 23(3):293-300. 10.1177/0883073807309233CrossRef Enrol I, Alehan F, Ozcay F, Canan O, Haberal M: Neurologic complications of liver transplantation in pediatric patients with the hepatic form of Wilson's disease. J Child Neurol 2008, 23(3):293-300. 10.1177/0883073807309233CrossRef
74.
go back to reference Medici V, Mirante VG, Fassati LR, Pompili M, Forti D, Del Gaudio M, Trevisan CP, Cillo U, Sturniolo GC, Fagiuoli S: Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders. Liver Transplant 2005, 11(9):1056-1063. 10.1002/lt.20486CrossRef Medici V, Mirante VG, Fassati LR, Pompili M, Forti D, Del Gaudio M, Trevisan CP, Cillo U, Sturniolo GC, Fagiuoli S: Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders. Liver Transplant 2005, 11(9):1056-1063. 10.1002/lt.20486CrossRef
75.
76.
go back to reference Walshe JM: The management of pregnancy in Wilsons-disease treated with trientine. Q J Med 1986, 58(225):81-87.PubMed Walshe JM: The management of pregnancy in Wilsons-disease treated with trientine. Q J Med 1986, 58(225):81-87.PubMed
77.
go back to reference Brewer GJ, Johnson VD, Dick RD, Hedera P, Fink JK, Kluin KJ: Treatment of Wilson's disease with zinc. XVII: Treatment during pregnancy. Hepatol 2000, 31(2):364-370. 10.1002/hep.510310216CrossRef Brewer GJ, Johnson VD, Dick RD, Hedera P, Fink JK, Kluin KJ: Treatment of Wilson's disease with zinc. XVII: Treatment during pregnancy. Hepatol 2000, 31(2):364-370. 10.1002/hep.510310216CrossRef
78.
go back to reference Messner U, Gunter HH, Niesert S: Wilson's disease and pregnancy. Z Geburtshilfe Neonatol 1998, 202(2):77-79.PubMed Messner U, Gunter HH, Niesert S: Wilson's disease and pregnancy. Z Geburtshilfe Neonatol 1998, 202(2):77-79.PubMed
79.
go back to reference Roberts EA, Schilsky ML: Diagnosis and treatment of Wilson disease: an update. Hepatol 2008, 47(6):2089-2111. 10.1002/hep.22261CrossRef Roberts EA, Schilsky ML: Diagnosis and treatment of Wilson disease: an update. Hepatol 2008, 47(6):2089-2111. 10.1002/hep.22261CrossRef
80.
go back to reference Malhi H, Joseph B, Schilsky ML, Gupta S: Development of cell therapy strategies to overcome copper toxicity in the LEC rat model of Wilson disease. Regen Med 2008, 3(2):165-173. 10.2217/17460751.3.2.165CrossRefPubMed Malhi H, Joseph B, Schilsky ML, Gupta S: Development of cell therapy strategies to overcome copper toxicity in the LEC rat model of Wilson disease. Regen Med 2008, 3(2):165-173. 10.2217/17460751.3.2.165CrossRefPubMed
Metadata
Title
Advance in the pathogenesis and treatment of Wilson disease
Authors
Qin-Yun Dong
Zhi-Ying Wu
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Translational Neurodegeneration / Issue 1/2012
Electronic ISSN: 2047-9158
DOI
https://doi.org/10.1186/2047-9158-1-23

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