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Wilson Disease

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Human Pathobiochemistry

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.

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References

  • 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 25–28

    Google Scholar 

  • Brewer GJ, Askari FK (2005) Wilson’s disease: clinical management and therapy. J Hepatol 42:S13–S21

    Article  Google Scholar 

  • Ferenci P (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 120:151–159

    Article  CAS  Google Scholar 

  • Fujii H (1997) Ceruloplasmin and copper metabolism in presymptomatic patients with Wilson’s disease, establishment of diagnostic criteria. Biomed Res Trace Elem 8:13–21

    Google Scholar 

  • 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 11:275–278

    Article  CAS  Google Scholar 

  • Kitzberger R, Madl C, Ferenci P (2005) Wilson disease. Metab Brain Dis 20:295–302

    Article  Google Scholar 

  • Nakamura H, Hemmi H, Shimizu N (2009) Molecular diagnosis of Wilson disease in Japanese patients. Toho J Med 56:65–70

    CAS  Google Scholar 

  • 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–p316

    Google Scholar 

  • Pecoud A, Donzel P, Schelling L (1975) Effect of foodstuffs on the absorption of zinc sulfate. Clin Pharmacol Ther 17:469–474

    Article  CAS  Google Scholar 

  • 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 61:317–328

    Article  CAS  Google Scholar 

  • Shimizu N (2017) Molecular diagnosis for Wilson disease in Japan. Kan Tan Sui 74:169–174 (in Japanese)

    Google Scholar 

  • 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)

    CAS  PubMed  Google Scholar 

  • Shimizu N, Yamaguchi Y, Aoki T (1999) Treatment and management of Wilson’s disease. Pediatr Int 41:419–422

    Article  CAS  Google Scholar 

  • 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 156:350–357

    Article  CAS  Google Scholar 

  • Sternlieb I (1990) Perspectives on Wilson’s disease. Hepatology 12:1234–1239

    Article  CAS  Google Scholar 

  • 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)

    CAS  PubMed  Google Scholar 

  • 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 12:370–376

    Article  CAS  Google Scholar 

  • Walshe JM (1956) Penicillamine a new oral therapy for Wilson’s disease. Am J Med 21:487–495

    Article  CAS  Google Scholar 

  • Walshe JM (1973) Copper chelation in patients with Wilson’s disease. A comparison of penicillamine and triethylene tetramine dihydrochloride. Q J Med 42:441–452

    CAS  PubMed  Google Scholar 

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Correspondence to Norikazu Shimizu .

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Shimizu, N., Aoki, T. (2019). Wilson Disease. In: Oohashi, T., Tsukahara, H., Ramirez, F., Barber, C., Otsuka, F. (eds) Human Pathobiochemistry. Springer, Singapore. https://doi.org/10.1007/978-981-13-2977-7_13

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