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Wilson Disease

  • Norikazu ShimizuEmail author
  • Tsugutoshi Aoki
Chapter

Abstract

An 8-year-old female visited our hospital because she was reportedly to have low serum ceruloplasmin levels. When she was 4 years old, she had a blood test to screen for the allergy condition at a different hospital. At that time, liver dysfunction, AST 193 IU/L (standard value, 24–38) and ALT 220 IU/L (standard value, 9–27), was pointed out. Despite the investigations, however, its cause remained unclear. She was treated with traditional Chinese medicine, but it did not decrease the serum transaminase levels. At the age of 8 years, she was introduced to our hospital for further evaluations.

Keywords

Wilson disease ATP7B Copper Ceruloplasmin Kayser-Fleischer ring 

References

  1. Aoki T, Suzuki M, Fujioka Y, Shimizu N, Fuji H, Nakazono H, Kawase C, Yamaguchi Y, Arashima S, Matsuda I, Arima M (1996) Neonatal and Perinatal screening, the Asian pacific perspective. In: STS L, CCP P (eds) Nationwide survey of clinical features of Wilson’s disease in Japan. The Chinese University Press, Hong Kong, pp 25–28Google Scholar
  2. Brewer GJ, Askari FK (2005) Wilson’s disease: clinical management and therapy. J Hepatol 42:S13–S21CrossRefGoogle Scholar
  3. Ferenci P (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 120:151–159CrossRefGoogle Scholar
  4. Fujii H (1997) Ceruloplasmin and copper metabolism in presymptomatic patients with Wilson’s disease, establishment of diagnostic criteria. Biomed Res Trace Elem 8:13–21Google Scholar
  5. Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH (1998) Identification of three novel mutations and high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 11:275–278CrossRefGoogle Scholar
  6. Kitzberger R, Madl C, Ferenci P (2005) Wilson disease. Metab Brain Dis 20:295–302CrossRefGoogle Scholar
  7. Nakamura H, Hemmi H, Shimizu N (2009) Molecular diagnosis of Wilson disease in Japanese patients. Toho J Med 56:65–70Google Scholar
  8. Oelshlegel FJ Jr, Brewer GJ (1997) Absorption of pharmacologic dose of zinc. Zinc metabolism: current aspects in health and disease. Alan R Liss, Inc, New York, pp p299–p316Google Scholar
  9. Pecoud A, Donzel P, Schelling L (1975) Effect of foodstuffs on the absorption of zinc sulfate. Clin Pharmacol Ther 17:469–474CrossRefGoogle Scholar
  10. Shah AB, Chernov I, Zhang HT et al (1997) Identification and analysis of mutation in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analysis. Am J Hum Genet 61:317–328CrossRefGoogle Scholar
  11. Shimizu N (2017) Molecular diagnosis for Wilson disease in Japan. Kan Tan Sui 74:169–174 (in Japanese)Google Scholar
  12. Shimizu N, Suzuki M, Yamaguchi Y, Aoki T, Matsuda I, Arima M (1996) A nation-wide survey for neurologic and hepato-neurologic type of Wilson disease: clinical features and hepatic copper content. No To Hattatsu 28:391–397 (in Japanese)PubMedGoogle Scholar
  13. Shimizu N, Yamaguchi Y, Aoki T (1999) Treatment and management of Wilson’s disease. Pediatr Int 41:419–422CrossRefGoogle Scholar
  14. Shimizu N, Fujiwara J, Ohnishi S, Sato M, Kodama H, Kohsaka T, Inui A, Fujisawa T, Tamai H, Ida S, Itoh S, Ito M, Horiike N, Harada M, Yoshino M, Aoki T (2010) Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism. Transl Res 156:350–357CrossRefGoogle Scholar
  15. Sternlieb I (1990) Perspectives on Wilson’s disease. Hepatology 12:1234–1239CrossRefGoogle Scholar
  16. Suda M, Kubota J, Yamaguchi Y, Fujioka Y, Saito Y, Aoki T (1993) A study of trienthine therapy in Wilson’s disease with neurological symptoms. No To Hattatsu 25:429–434 (in Japanese)PubMedGoogle Scholar
  17. Tsai CH, Tsai FJ, Wu JY, Chang JG, Lee CC, Lin SP, Yang CF, Jong YJ, Lo MC (1998) Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat 12:370–376CrossRefGoogle Scholar
  18. Walshe JM (1956) Penicillamine a new oral therapy for Wilson’s disease. Am J Med 21:487–495CrossRefGoogle Scholar
  19. Walshe JM (1973) Copper chelation in patients with Wilson’s disease. A comparison of penicillamine and triethylene tetramine dihydrochloride. Q J Med 42:441–452PubMedGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of PediatricsToho University Ohashi Medical CenterTokyoJapan

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