Skip to main content
SpringerLink
Log in
Book cover

Management of Wilson Disease pp 161–173Cite as

Unique Pediatric Aspects of Wilson Disease

  • Chapter
  • First Online:

  • 497 Accesses

Part of the book series: Clinical Gastroenterology ((CG))

Abstract

Children and adolescents comprise a sizeable proportion of affected individuals with Wilson disease (WD). The initial presentation of WD in children is usually with hepatic dysfunction ranging from asymptomatic elevation of liver tests to chronic hepatitis-cirrhosis and acute liver failure. Lifelong treatment with copper chelators or zinc is an effective treatment for WD, particularly if initiated early; thus, prompt diagnosis is critical. The diagnosis, treatment, and monitoring of children are similar to those of adults. In this chapter we highlight characteristics that we consider unique to young patients and provide practical solutions to overcome barriers to some commonly encountered issues in pediatric patients with WD.

Disclosures

Dr. Gonzalez-Peralta is on advisory boards for Genentech-Roche, Kadmon, and Shire and scientific board of the Wilson Disease Association; he also receives grant support from Gilead, AbbVie, and Merck.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Walsh JM. The liver in Wilson’s disease (hepatolenticular degeneration). Diseases of the liver. Philadelphia: Lippincott; 1982. p. 1037–50.

    Google Scholar 

  2. Scheinberg IH, Sternlieb I. Wilson’s disease. Philadelphia: WB Saunders; 1984.

    Google Scholar 

  3. SAK W. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295–507.

    Article  Google Scholar 

  4. Iorio R, D’ambrosi M, Mazzarella G, et al. Early occurrence of hypertransaminasemia in a 13 month old child with Wilson disease. J Pediatr Gastroenterol Nutr. 2003;36:637–8.

    Article  PubMed  Google Scholar 

  5. Kim JW, Kim JH, Seo JK, et al. Genetically confirmed Wilson disease in a 9 month old boy with elevations of aminotransferases. World J Hepatol. 2013;5:156–9.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Abuduxikuer K, Li LT, Qiu YL, et al. Wilson disease with hepatic presentation in an eight month old boy. World J Gastroenterol. 2015;21:8981–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Sternlieb L, Scheinberg IH. Prevention of Wilsons disease in asymptomatic patients. N Engl J Med. 1968;2278:352–9.

    Article  Google Scholar 

  8. Walsh JM. Diagnosis and treatment of presymptomatic Wilson’s disease. Lancet. 1988;2(8608):435–7.

    Article  Google Scholar 

  9. Dziezyc K, Karlinski M, Litwin T, et al. Compliant treatment with anti-copper agents prevents clinically overt Wilson’s disease in presymptomatic patients. Eur J Neurol. 2014;21:332–7.

    Article  CAS  PubMed  Google Scholar 

  10. Dubbioso R, Ranucci G, Esposito M, et al. Subclinical neurological involvement does not develop if Wilson’s disease is treated early. Parkinsonism Relat Disord. 2016 March;24:15–6.

    Article  PubMed  Google Scholar 

  11. Socha P, Janczyk W, Dhawan A, et al. Wilson’s disease in children: a position paper by the Hepatology Committee of the European Society for paediatric gastroenterology, hepatology and nutrition. J Pediatr Gastroenterol Nutr. 2018;66:334–44.

    Article  PubMed  Google Scholar 

  12. Walsh JM. Cause of death in Wilson disease. Mov Disord. 2007;22:2216–20.

    Article  Google Scholar 

  13. Scheinberg IH, Sterlieb I. Wilson disease and idiopathic copper toxicosis. Am J Clin Nutr. 1996;63:842S–5S.

    Article  CAS  PubMed  Google Scholar 

  14. O’Connor JA, Sokol RJ. Copper metabolism and copper storage disorders. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver disease in children. New York: Cambridge University Press; 2007. p. 626–60.

    Chapter  Google Scholar 

  15. Wiernicka A, Dadalski M, janczyk W, et al. Early onset of Wilson disease: diagnostic challenges. J Pediatr Gastroenterol Nutr. 2017;65:555–60.

    Article  PubMed  Google Scholar 

  16. Cassin B, Soloman SAB. Dictionary of eye terminology. Third ed. Gainsville: Triad Publishing Company; 1997.

    Google Scholar 

  17. Roberts EA, Socha P. Wilson disease in children. Handbook of clinical neurology. Amsterdam: Elsevier; 2017. p. 145.

    Google Scholar 

  18. Martins Da Costa C, Baldwin D, Portmann B, et al. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson’s disease. Hepatology. 1992;15:609–15.

    Article  CAS  PubMed  Google Scholar 

  19. Muller T, Koppikar S, Taylor RM, et al. Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease. In children. J Hepatol. 2007;47:270–6.

    Article  CAS  PubMed  Google Scholar 

  20. Schilsky ML. Non-invasive testing for Wilson disease: revisiting the d-penicillamine challenge test. J Hepatol. 2007;47(2):172–3.

    Article  CAS  PubMed  Google Scholar 

  21. Nicastro E, Ranucci G, Vajro P, et al. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology. 2010;52:1948.

    Article  PubMed  Google Scholar 

  22. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089–111.

    Article  CAS  PubMed  Google Scholar 

  23. Dezsofi OA, Baumann U, Dhawan A, Durmaz O, Fischler B, Hadzic N, Hierro L, Lacaille F, McLin VA, Nobili V, Socha P, Vajro P, Knisely AS. Liver biopsy in children: position paper of the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr. 2015;60:408–20.

    Article  PubMed  Google Scholar 

  24. Cohen MB, HH A-K, Lambers D, Heubi JE. Complications of percutaneous liver biopsy in children. Gastroenterology. 1992;102:629.

    Article  CAS  PubMed  Google Scholar 

  25. Ferenci P, Steindl-Munda P, Vogel W, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s disease. Clin Gastroenterol Hepatol. 2005;3:811–8.

    Article  CAS  PubMed  Google Scholar 

  26. Arnon R, Calderon JF, Schilsky M, et al. Wilson disease in children: serum aminotransferases and urinary copper on triethylene tetramine dihydrochloride (trientine) treatment. J Pediatr Gastroenterol Nutr. 2007;44:596–602.

    Article  CAS  PubMed  Google Scholar 

  27. 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;168:1061–8.

    Article  PubMed  Google Scholar 

  28. Weiss KH, Thurrik F, Gotthardt DN, et al. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastroenterol Hepatol. 2013;21:599–606.

    Google Scholar 

  29. Litwin T, Dzlezyc K, Karlinski M, et al. Early neurological worsening in patients with Wilson’s disease. J Neurol Sci. 2015;355:162–7.

    Article  PubMed  Google Scholar 

  30. Czlonkowska A, Litwin T, Karlinski M, et al. D-penicillamine versus zinc sulfate as first line therapy in Wilson’s disease. Eur J Neurol. 2014;21:599–606.

    Article  CAS  PubMed  Google Scholar 

  31. Paul AC, Varkki S, Yohannan NB, et al. Neurologic deterioration in a child with Wilson’s disease on penicillamine therapy. Indian J Gastroenterol. 2003;22:104–5.

    PubMed  Google Scholar 

  32. Kalita J, Kumar V, Chandra S, et al. Worsening of Wilson disease following penicillamine therapy. Eur Neurol. 2014;71:126–31.

    Article  CAS  PubMed  Google Scholar 

  33. Brewer GJ, Dick RD, Johnson V. Treatment of Wilson’s disease with zinc XVI: treatment during pediatric years. J Lab Clin Med. 2001;137:191–8.

    Article  CAS  PubMed  Google Scholar 

  34. Mizuochi T, Kimuar A, Shimizu N, et al. Zinc monotherapy from time of diagnosis for young pediatric patients with presymptomatic Wilson disease. J Pediatric Gastroenterol. 2011;53:365–7.

    Article  CAS  Google Scholar 

  35. Marcellini M, Di Ciommo V, Callea F, et al. Treatment of Wilsons disease with zinc from the time of diagnosis in pediatric patients: a single-hospital, 10 year follow-up study. J Lab Clin Med. 2005;145:139–43.

    Article  CAS  PubMed  Google Scholar 

  36. Shimizu N, Fujiwara J, Ohnishi S, et al. Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism. Transl Res. 2010;156:350–7.

    Article  CAS  PubMed  Google Scholar 

  37. Eda K, Mizuochi T, Iwama I, et al. Zinc monotherapy for young children with presymptomatic Wilson disease: a multicenter study in Japan. J Gastroenterol Hepatol. 2018;33:264–9.

    Article  CAS  PubMed  Google Scholar 

  38. Dawood OT, Izham M, Ibrahim M, et al. Medication compliance among children. World J Pediatr. 2010;6:200–2.

    Article  PubMed  Google Scholar 

  39. Lask B. Motivating children and adolescents to improve adherence. Journal of Paediatrics. 2003;143:430–3.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Gastroenterology and Hepatology, Royal Surrey County Hospital, Guildford, Surrey, UK

    Michelle Camarata

  2. Department of Clinical and Experimental Medicine, University of Surrey, Guildford, Surrey, UK

    Michelle Camarata

  3. Department of Surgery, Section of Transplant and Immunology, Yale School of Medicine, New Haven, CT, USA

    Michelle Camarata

  4. Division of Pediatric Gastroenterology, Hepatology and Liver Transplantation, Florida Hospital for Children, Orlando, FL, USA

    Regino P. Gonzalez-Peralta

Authors
  1. Michelle Camarata
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Regino P. Gonzalez-Peralta
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Regino P. Gonzalez-Peralta .

Editor information

Editors and Affiliations

  1. Yale New Haven Transplantation Center, Yale University, New Haven, Connecticut, USA

    Michael L. Schilsky

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Camarata, M., Gonzalez-Peralta, R.P. (2018). Unique Pediatric Aspects of Wilson Disease. In: Schilsky, M. (eds) Management of Wilson Disease . Clinical Gastroenterology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-91527-2_9

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-91527-2_9

  • Published:

  • Publisher Name: Humana Press, Cham

  • Print ISBN: 978-3-319-91526-5

  • Online ISBN: 978-3-319-91527-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation