Wilson's Disease

Semin Neurol. 2007 Apr;27(2):123-32. doi: 10.1055/s-2007-971173.

Abstract

Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces protean clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological, and other derangements. Genetic testing is impractical because of the multitude of mutations that have been identified, so accurate diagnosis relies on judicious use of a battery of laboratory and other diagnostic tests. Lifelong palliative treatment with a growing stable of medications, or with liver transplantation if needed, can successfully ameliorate or prevent the progressive deterioration and eventual death that would otherwise inevitably ensue. This article discusses the epidemiology, genetics, pathophysiology, clinical features, diagnostic testing, and treatment of Wilson's disease.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Cation Transport Proteins / genetics
  • Copper-Transporting ATPases
  • Eye Diseases / etiology
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / physiopathology
  • Hepatolenticular Degeneration / therapy*
  • Humans
  • Liver Diseases / etiology
  • Mental Disorders / etiology
  • Mutation
  • Nervous System Diseases / etiology
  • Practice Guidelines as Topic

Substances

  • Cation Transport Proteins
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases