Wilson's Disease: Difference between revisions
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== Prevalence == | == Prevalence == | ||
Wilson’s disease is a rare condition, affecting only one person in 30,000 in most populations. (WDA) (Autosomal recessive) The gene frequency for this disease has been found to be 56%, with a carrier frequency of 1 in every 90 people. (WJH) According to recent studies, an increase incidence of this gene mutation has been found in isolated populations like Costa Rica and Sardinia, an island off Italy. | |||
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== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
Revision as of 03:11, 6 April 2016
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Rachel Rawson, Lexi Vessels, Aminat Abolade, Kim Jackson, Vidya Acharya, WikiSysop and Elaine Lonnemann
Definition/Description[edit | edit source]
Wilson’s disease, also known as hepatolenticular degeneration, is an autosomal recessive disorder that results from abnormal metabolism of copper. (Wu) It is caused from the mutation of the ATP7B gene, and leads to the accumulation of copper in key organs such as the liver, central nervous system, kidney, cornea and other tissues, resulting in impaired function. (Goodman/Wu) The deposition of copper begins immediately at birth, with symptoms usually presenting in late adolescence. Wilson's disease typically manifests into two common presentations: Liver disease or neurological symptoms due to the liver and the brain being major target organs in the accumulation of copper. Symptomatic adolescents will tend to experience more symptoms related to liver pathologies, while older adults will experience neurological signs and symptoms. (WHJ)
Prevalence[edit | edit source]
Wilson’s disease is a rare condition, affecting only one person in 30,000 in most populations. (WDA) (Autosomal recessive) The gene frequency for this disease has been found to be 56%, with a carrier frequency of 1 in every 90 people. (WJH) According to recent studies, an increase incidence of this gene mutation has been found in isolated populations like Costa Rica and Sardinia, an island off Italy.
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Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Etiology/Causes[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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