title: Wilson's disease.
abstract: In the almost 100 years since Wilson's description of the illness that now bears his name, tremendous advances have been made in our understanding of this disorder. The genetic basis for Wilson's disease - mutation within the ATP7B gene - has been identified. The pathophysiologic basis for the damage resulting from the inability to excrete copper via the biliary system with its consequent gradual accumulation, first in the liver and ultimately in the brain and other organs and tissues, is now known. This has led to the development of effective diagnostic and treatment modalities that, although they may not eliminate the disorder, do provide the means for efficient diagnosis and effective amelioration if carried out in a dedicated and persistent fashion. Nevertheless, Wilson's disease remains both a diagnostic and treatment challenge for physician and patient. Its protean clinical manifestations make diagnosis difficult. Appropriate diagnostic evaluations to confirm the diagnosis and institute treatment can be confusing. In this chapter, the clinical manifestations, diagnostic evaluation, and treatment approaches for Wilson's disease are discussed.
authors.affiliation: Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA. rpfeiffer@utmem.edu
authors.forename: Ronald F
authors.initials: RF
authors.lastname: Pfeiffer
mesh_terms: D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000266:history / Q000628:therapy*; D049673:History, 20th Century; D006801:Humans; D010781:Photography