Wilson's disease

Research output: Book/ReportBook

22 Citations (Scopus)

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.

Original languageEnglish (US)
PublisherUnknown Publisher
Number of pages29
Volume100
DOIs
StatePublished - 2011
Externally publishedYes

Publication series

NameHandbook of Clinical Neurology
Volume100
ISSN (Print)00729752

Fingerprint

Hepatolenticular Degeneration
Biliary Tract
Therapeutics
Names
Copper
Physicians
Mutation
Liver
Brain
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Pfeiffer, R. (2011). Wilson's disease. (Handbook of Clinical Neurology; Vol. 100). Unknown Publisher. https://doi.org/10.1016/B978-0-444-52014-2.00049-5

Wilson's disease. / Pfeiffer, Ronald.

Unknown Publisher, 2011. 29 p. (Handbook of Clinical Neurology; Vol. 100).

Research output: Book/ReportBook

Pfeiffer, R 2011, Wilson's disease. Handbook of Clinical Neurology, vol. 100, vol. 100, Unknown Publisher. https://doi.org/10.1016/B978-0-444-52014-2.00049-5
Pfeiffer R. Wilson's disease. Unknown Publisher, 2011. 29 p. (Handbook of Clinical Neurology). https://doi.org/10.1016/B978-0-444-52014-2.00049-5
Pfeiffer, Ronald. / Wilson's disease. Unknown Publisher, 2011. 29 p. (Handbook of Clinical Neurology).
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