Wilson disease

  • Nat Rev Dis Primers. 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3.
Anna Członkowska  1  2 ,  Tomasz Litwin  3 ,  Petr Dusek  4 ,  Peter Ferenci  5 ,  Svetlana Lutsenko  6 ,  Valentina Medici  7 ,  Janusz K Rybakowski  8 ,  Karl Heinz Weiss  9 ,  Michael L Schilsky  10
Affiliations
  • 1. 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. [email protected].
  • 2. Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Warsaw, Poland. [email protected].
  • 3. 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • 4. Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • 5. Internal Medicine 3, Department of Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria.
  • 6. Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • 7. Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of California, Davis, Sacramento, CA, USA.
  • 8. Department of Adult Psychiatry, Poznań University of Medical Sciences, Poznań, Poland.
  • 9. Department of Gastroenterology and Hepatology, University Hospital Heidelberg, Heidelberg, Germany.
  • 10. Section of Digestive Diseases and Transplantation and Immunology, Department of Medicine and Surgery, Yale University School of Medicine, New Haven, CT, USA.
PMID: 30190489 DOI: 10.1038/s41572-018-0018-3
Abstract

Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive Liver Disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.