New knowledge of genetic pathogenesis of hemochromatosis and Wilson's disease

Adv Intern Med. 1999;44:91-116.

Abstract

Discovery of the gene for WD has greatly enhanced our understanding of this disorder at the cellular level and has set the stage for future testing of new modes of therapy. Improvements in analytic methods for detecting mutations in genomic DNA will someday enable a rapid and cost-effective method of screening for this disorder. Until then, the time-tested clinical and biochemical evaluation, including measurement of ceruloplasmin oxidase activity, slit-lamp examination for Kayser-Fleischer rings, and measurement of hepatic copper content, will continue to remain the standard for establishing the diagnosis of WD.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Carrier Proteins / genetics
  • Cation Transport Proteins*
  • Ceruloplasmin / analysis
  • Copper / analysis
  • Copper-Transporting ATPases
  • Cost-Benefit Analysis
  • DNA / genetics
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics*
  • Hemochromatosis / physiopathology
  • Hemochromatosis / therapy
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / physiopathology
  • Hepatolenticular Degeneration / therapy
  • Humans
  • Liver / chemistry
  • Mass Screening / economics
  • Mass Screening / methods
  • Mutation / genetics

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Copper
  • DNA
  • Ceruloplasmin
  • Adenosine Triphosphatases
  • Copper-Transporting ATPases