You are here

Article Text

Article menu
Download PDFPDF
Best practice
Wilson’s disease: best practice
  1. Aidan Ryan1,2,
  2. Patrick J Twomey3,4,
  3. Paul Cook5
  1. 1 Chemical Pathology, Cork University Hospital, Cork, Ireland, Cork University Hospital Biochemistry Laboratory, Cork, Ireland
  2. 2 Pathology, School of Medicine, University College Cork College of Medicine and Health, Cork, Ireland
  3. 3 Clinical Chemistry, St Vincent's University Hospital, Dublin, Ireland
  4. 4 University College Dublin School of Medicine and Medical Science, Dublin, Ireland
  5. 5 Laboratory Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  1. Correspondence to Dr Aidan Ryan, Chemical Pathology, Cork University Hospital, Cork University Hospital Biochemistry Laboratory, Cork, T12 DC4A, Ireland; aidan.ryan1{at}hse.ie

Abstract

Wilson’s disease is an autosomal recessive disorder arising from pathogenic variants in the Atp7b gene on chromosome 13. The defective translated ATPase copper (Cu) transport protein produced leads to Cu accumulation, initially affecting the liver but eventually affecting other cells. It is just over 20 years since the last Best Practice on this topic in this journal. This review is an update on this, covering new disease biomarkers, pathogenesis, assumptions around clinical features and developments in therapy.

  • NEUROPATHOLOGY
  • DIAGNOSIS
  • GENETICS
  • EDUCATION

http://dx.doi.org/10.1136/jcp-2022-208551

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Handling editor Vikram Deshpande.

    • Contributors All of the authors contributed equally to this article.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed.