Publication Cover
Neurological Research
A Journal of Progress in Neurosurgery, Neurology and Neurosciences
Volume 36, 2014 - Issue 2
313
Views
39
CrossRef citations to date
0
Altmetric
Original Research Papers

Comprehensive analysis on clinical features of Wilson’s disease: an experience over 28 years with 133 cases

, , , , &

References

  • Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089–111.
  • de Bie P MP, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007;44:673–88.
  • Tao TY, JD G. Hepatic copper metabolism: insights from genetic disease. Hepatology. 2003;37:1241–7.
  • Li XH, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, . Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. BMC Med Genet. 2011;12:6.
  • Ghaffar TYA, Elsayed SM, Elnaghy S, Shadeed A, Elsobky ES, Schmidt H. Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. BMC Pediatr. 2011;11:56.
  • Margarit E, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, . Mutation analysis of Wilson disease in the Spanish population – identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet. 2005;68:61–8.
  • Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9:210–7.
  • Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089–111.
  • Frydman M. Genetic aspects of Wilson’s disease. J Gastroenterol Hepatol. 1990;5:483–90.
  • Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson's disease: an experience over three decades. Gut. 2000;46:415–9.
  • Strickland GT, Leu ML. Wilson’s disease. Clinical and laboratory manifestations in 40 patients. Medicine (Baltimore). 1975;54:113–37.
  • Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007;56:115–20.
  • Brewer GJ, Dick RD, Johnson VD, Fink JK, Kluin KJ, Daniels S. Treatment of Wilson's disease with zinc XVI: treatment during the pediatric years. J Lab Clin Med. 2001;137:191–8.
  • Honma Y, Harada M, Sato M, Fink JK, Kluin KJ, Daniels S. Late diagnosed Wilson disease with hepatic and neurological manifestations. Hepatol Res. 2011;41:270–6.
  • Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 2005;41:668–70.
  • Członkowska A, Rodo M, Gromadzka G. Late onset Wilson's disease: therapeutic implications. Mov Disord. 2008;23:896–8.
  • Iorio R, D'Ambrosi M, Mazzarella G, Varrella F, Vecchione R, Vegnente A. Early occurrence of hypertransaminasemia in a 13-month-old child with Wilson disease. J Pediatr Gastroenterol Nutr. 2003;36:637–8.
  • Beyersdorff A, Findeisen A. Morbus Wilson: case report of a two-year-old child as first manifestation. Scand J Gastroenterol. 2006;41:496–7.
  • Mak CM, Tam S, Fan ST, Liu CL, Lam CW. Wilson's disease: a patient undiagnosed for 18 years. Hong Kong Med J. 2006;12:154–8.
  • Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson's disease in preschool-aged children. J Pediatr. 2000;137:719–22.
  • Bem RS, Muzzillo DA, Deguti MM, Barbosa ER, Werneck LC, Teive HA. Wilson's disease in southern Brazil: a 40-year follow-up study. Clinics (Sao Paulo). 2011;66:411–6.
  • Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007;56:115–20.
  • Emre S, Atillasoy EO, Ozdemir S, Schilsky M, Rathna Varma CV, Thung SN, . Orthotopic liver transplantation for Wilson's disease: a single-center experience. Transplantation. 2001;72:1232–6.
  • Medici V, Trevisan CP, D'Incà R, Barollo M, Zancan L, Fagiuoli S, . Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol. 2006;40:936–41.
  • Demirkiran M, Jankovic J, Lewis RA, Cox DW. Neurologic presentation of Wilson disease without Kayser–Fleischer rings. Neurology. 1996;46:1040–3.
  • Sánchez-Albisua I, Garde T, Hierro L, Camarena C, Frauca E, de la Vega A, . A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr. 1999;28:186–90.
  • Mansoor S, Naveed AK, Majeed A. Analysis of clinical and biochemical spectrum of Wilson disease patients. Indian J Pathol Microbiol. 2012;55:365.
  • Yarze JC, Martin P, Muñoz SJ, Friedman LS. Wilson's disease: current status. Am J Med. 1992;92:643–54.
  • Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, Maier-Dobersberger 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;113:212–8.
  • Frommer D. Urinary copper excretion and hepatic copper concentrations in liver disease. Digestion. 1981;21:169–78.
  • Perman JA, Werlin SL, Grand RJ, Watkins JB. Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson disease in children. J Pediatr. 1979;94:564–8.
  • Ferenci P, Steindl-Munda P, Vogel W, Jessner W, Gschwantler M, Stauber R, . Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease. Clin Gastroenterol Hepatol. 2005;3:811–8.
  • Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, . Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver Int. 2011;31:831–9.
  • Leggio L, Malandrino N, Loudianos G, Abenavoli L, Lepori MB, Capristo E, . Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype–phenotype correlation with hepatic onset. Dig Dis Sci. 2007;52:2570–5.
  • Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, . Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease. Hum Mutat. 2000;15:454–62.
  • Nicastro E, Loudianos G, Zancan L, D'Antiga L, Maggiore G, Marcellini M, Barbera C, Marazzi MG, Francavilla R, Pastore M, Vajro P, D'Ambrosi M, Vegnente A, Ranucci G, Iorio R. Genotype–phenotype correlation in Italian children with Wilson's disease. J Hepatol. 2009;50:555–61.
  • Wang L-C, Wang J-D, Tsai C-R, Cheng SB, Lin CC. Clinical features and therapeutic response in Taiwanese children with Wilson's disease: 12 years of experience in a single center. Pediatr Neonatol. 2010;51:124–9.
  • Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, . Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet. 2002;47:543–7.
  • Członkowska A, Gromadzka G, Chabik G. Monozygotic female twins discordant for phenotype of Wilson's disease. Mov Disord. 2009;24:1066–9.
  • Schmidt HH. Role of genotyping in Wilson's disease. J Hepatol. 2009;50:449–52.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.