Advertisement

Unique Pediatric Aspects of Wilson Disease

  • Michelle Camarata
  • Regino P. Gonzalez-Peralta
Chapter
Part of the Clinical Gastroenterology book series (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.

Keywords

Wilson Disease Copper Treatment Children Adolescent Pediatric 

References

  1. 1.
    Walsh JM. The liver in Wilson’s disease (hepatolenticular degeneration). Diseases of the liver. Philadelphia: Lippincott; 1982. p. 1037–50.Google Scholar
  2. 2.
    Scheinberg IH, Sternlieb I. Wilson’s disease. Philadelphia: WB Saunders; 1984.Google Scholar
  3. 3.
    SAK W. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295–507.CrossRefGoogle Scholar
  4. 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.CrossRefPubMedGoogle Scholar
  5. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  6. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Sternlieb L, Scheinberg IH. Prevention of Wilsons disease in asymptomatic patients. N Engl J Med. 1968;2278:352–9.CrossRefGoogle Scholar
  8. 8.
    Walsh JM. Diagnosis and treatment of presymptomatic Wilson’s disease. Lancet. 1988;2(8608):435–7.CrossRefGoogle Scholar
  9. 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.CrossRefPubMedGoogle Scholar
  10. 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.CrossRefPubMedGoogle Scholar
  11. 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.CrossRefPubMedGoogle Scholar
  12. 12.
    Walsh JM. Cause of death in Wilson disease. Mov Disord. 2007;22:2216–20.CrossRefGoogle Scholar
  13. 13.
    Scheinberg IH, Sterlieb I. Wilson disease and idiopathic copper toxicosis. Am J Clin Nutr. 1996;63:842S–5S.CrossRefPubMedGoogle Scholar
  14. 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.CrossRefGoogle Scholar
  15. 15.
    Wiernicka A, Dadalski M, janczyk W, et al. Early onset of Wilson disease: diagnostic challenges. J Pediatr Gastroenterol Nutr. 2017;65:555–60.CrossRefPubMedGoogle Scholar
  16. 16.
    Cassin B, Soloman SAB. Dictionary of eye terminology. Third ed. Gainsville: Triad Publishing Company; 1997.Google Scholar
  17. 17.
    Roberts EA, Socha P. Wilson disease in children. Handbook of clinical neurology. Amsterdam: Elsevier; 2017. p. 145.Google Scholar
  18. 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.CrossRefPubMedGoogle Scholar
  19. 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.CrossRefPubMedGoogle Scholar
  20. 20.
    Schilsky ML. Non-invasive testing for Wilson disease: revisiting the d-penicillamine challenge test. J Hepatol. 2007;47(2):172–3.CrossRefPubMedGoogle Scholar
  21. 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.CrossRefPubMedGoogle Scholar
  22. 22.
    Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089–111.CrossRefPubMedGoogle Scholar
  23. 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.CrossRefPubMedGoogle Scholar
  24. 24.
    Cohen MB, HH A-K, Lambers D, Heubi JE. Complications of percutaneous liver biopsy in children. Gastroenterology. 1992;102:629.CrossRefPubMedGoogle Scholar
  25. 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.CrossRefPubMedGoogle Scholar
  26. 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.CrossRefPubMedGoogle Scholar
  27. 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.CrossRefPubMedGoogle Scholar
  28. 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. 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.CrossRefPubMedGoogle Scholar
  30. 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.CrossRefPubMedGoogle Scholar
  31. 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.PubMedGoogle Scholar
  32. 32.
    Kalita J, Kumar V, Chandra S, et al. Worsening of Wilson disease following penicillamine therapy. Eur Neurol. 2014;71:126–31.CrossRefPubMedGoogle Scholar
  33. 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.CrossRefPubMedGoogle Scholar
  34. 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.CrossRefGoogle Scholar
  35. 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.CrossRefPubMedGoogle Scholar
  36. 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.CrossRefPubMedGoogle Scholar
  37. 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.CrossRefPubMedGoogle Scholar
  38. 38.
    Dawood OT, Izham M, Ibrahim M, et al. Medication compliance among children. World J Pediatr. 2010;6:200–2.CrossRefPubMedGoogle Scholar
  39. 39.
    Lask B. Motivating children and adolescents to improve adherence. Journal of Paediatrics. 2003;143:430–3.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Michelle Camarata
    • 1
    • 2
    • 3
  • Regino P. Gonzalez-Peralta
    • 4
  1. 1.Department of Gastroenterology and HepatologyRoyal Surrey County HospitalGuildfordUK
  2. 2.Department of Clinical and Experimental Medicine, University of SurreyGuildfordSurreyUK
  3. 3.Department of Surgery, Section of Transplant and ImmunologyYale School of MedicineNew HavenUSA
  4. 4.Division of Pediatric Gastroenterology, Hepatology and Liver TransplantationFlorida Hospital for ChildrenOrlandoUSA

Personalised recommendations