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Wilson’s Disease

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Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Abstract

Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. Copper accumulation in the liver and other organs and tissues including brain results from the mutation of adenosine triphosphatase 7B (ATPase7B)—a protein responsible for transporting copper within hepatocyte. Finally, copper is incorporated with ceruloplasmin or excreted into the bile. There are two major clinical presentations—liver and neurological (rare in children). Liver symptoms may vary in severity—from asymptomatic forms to cirrhosis and acute liver failure. Diagnosis is based on a scoring system which is a combination of different clinical symptoms, biochemical tests that include determination of ceruloplasmin concentration, 24-h urinary copper excretion, copper content in the liver and molecular analysis. Pharmacological therapy is mainly based on chelating agents such as penicillamine and trientine and zinc preparations. It was proven to be very effective but the major problem on long term is poor compliance. Liver transplantation is indicated only in selected cases, mainly with acute liver failure, and the medical decision can be based on a special prognostic scoring system.

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Author information

Authors and Affiliations

  1. Department of Gastroenterology, Hepatology and Nutrition Disorders, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland

    Piotr Socha

  2. Academic Unit of Child Health, Sheffield Children’s Hospital, University of Sheffield, Western Bank, S10 2TH, Sheffield, UK

    Stuart Tanner

Authors
  1. Piotr Socha
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  2. Stuart Tanner
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Correspondence to Piotr Socha .

Editor information

Editors and Affiliations

  1. Department of Pediatrics, University of Chicago, Chicago, Illinois, USA

    Stefano Guandalini

  2. Clinical Director Child Health King’s College Hospital, Professor and Director Pediatric Liver, GI and Nutrition Center, London, United Kingdom

    Anil Dhawan

  3. Department of Pediatrics, Hebrew University Hadassah Hospital, Jerusalem, Israel

    David Branski

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© 2016 Springer International Publishing Switzerland

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Socha, P., Tanner, S. (2016). Wilson’s Disease. In: Guandalini, S., Dhawan, A., Branski, D. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-319-17169-2_65

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  • DOI: https://doi.org/10.1007/978-3-319-17169-2_65

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17168-5

  • Online ISBN: 978-3-319-17169-2

  • eBook Packages: MedicineMedicine (R0)

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