[Wilson disease]

Presse Med. Jul-Aug 2009;38(7-8):1089-98. doi: 10.1016/j.lpm.2008.11.017. Epub 2009 Feb 23.
[Article in French]

Abstract

Wilson Disease must be considered in very varied circumstances, including in patients older than 50 years. Its diagnosis is not based on a single test but on a group of findings. The copper levels may be difficult to interpret. Molecular biology can confirm the diagnosis in only 80% of cases. The advice of the reference center is necessary before beginning treatment: chelators or zinc salts. Lifetime treatment is required. Follow-up of these patients must be regular and multidisciplinary and should be conducted in association with the reference center. Inclusion in the national registry for Wilson Disease must be suggested to all patients.

Contact: cmr.wilson@lrb.aphp.fr.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Brain / pathology
  • Cation Transport Proteins / genetics
  • Chelating Agents / therapeutic use
  • Copper / metabolism
  • Copper Transport Proteins
  • Copper-Transporting ATPases
  • Disclosure
  • Hepatocytes / metabolism
  • Hepatolenticular Degeneration / drug therapy
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / physiopathology*
  • Humans
  • Iron / metabolism
  • Magnetic Resonance Imaging
  • Metallochaperones
  • Molecular Chaperones / genetics
  • Monitoring, Physiologic
  • Patient Care Team
  • Penicillamine / therapeutic use
  • Phenotype
  • RNA, Messenger / genetics
  • Registries
  • Zinc / therapeutic use

Substances

  • ATOX1 protein, human
  • Cation Transport Proteins
  • Chelating Agents
  • Copper Transport Proteins
  • Metallochaperones
  • Molecular Chaperones
  • RNA, Messenger
  • Copper
  • Iron
  • Adenosine Triphosphatases
  • Copper-Transporting ATPases
  • Penicillamine
  • Zinc