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Wilson’s disease

GC: n

CT: But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
S: MAYO - http://www.mayoclinic.org/diseases-conditions/wilsons-disease/basics/definition/con-20043499(external link) (last access: 18 May 2017)

N: 1. - Wilson (pn): Samuel Alexander Kinnier Wilson (1878-1937), who was one of the world's greatest neurologists of the first half of the 20th century.
- disease (n): Early 14c., from Old French desaise (‘discomfort, inconvenience’), des- (‘dis = without, away’) + -aise (‘ease = physical comfort, undisturbed state of the body; tranquility, peace of mind’).
2. Wilson's disease (hepatolenticular degeneration) is a hereditary disorder characterized by the accumulation of copper in the body, especially in the liver, brain, kidneys, and corneas. The excess copper leads to tissue injury and ultimately, if effective treatment is not instituted, to death.
3. The disorder is caused by autosomal recessive mutations (defects inherited from both parents) in a gene known as ATP7B, which produces a membrane protein that regulates the transport of copper out of cells. When the ATP7B gene is mutated, the membrane protein becomes dysfunctional, resulting in inefficient cellular export of copper. This in turn results in reduced binding of copper to a protein called ceruloplasmin, which is produced in the liver. Normally, ceruloplasmin binds to copper in the liver, circulates through the blood, and delivers the copper atoms to distant cells that use the atoms for basic processes. Mutation of ATP7B also disrupts normal biliary excretion of copper. The combination of decreased binding to ceruloplasmin and disrupted excretion results in the accumulation of copper in the liver, which damages liver cells. Excess free copper atoms that escape from the liver accumulate in other tissues, and the copper that is deposited in the affected structures gives rise to the characteristic symptoms of Wilson disease, which include tremors,incoordination, and personality changes.
4. Men and women develop Wilson disease at equal rates. About one in 30,000 people have Wilson disease. Symptoms usually appear between ages 5 and 35; however, new cases have been reported in people ages 3 to 72.
A person’s risk of being a carrier or having Wilson disease increases when his or her family has a known history of Wilson disease. Some people may not know about a family history of the condition because the mutation is often passed to a child by a parent who is a carrier. A person’s chances of having Wilson disease increase if a health care provider has diagnosed one or both parents with the condition
5. Cultural Interrelation: We can mention that Samuel Wilson in July 1912 won great repute and received the gold medal of the University of Edinburgh for a 211 page doctoral thesis entitled Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver.

S: 1. NCBI - https://www.ncbi.nlm.nih.gov/labs/articles/24125461/(external link) (last access: 31 March 2017); OED - http://www.etymonline.com/index.php?term=disease&allowed_in_frame=0(external link) ; http://www.etymonline.com/index.php?term=ease&allowed_in_frame=0(external link) (last access: 17 March 2017). 2. TERMIUMPLUS - https://goo.gl/YTzm2t(external link) (last access: 21 March 2017). 3. EncBrit - https://www.britannica.com/science/Wilson-disease(external link) (last access: 31 March 2017). 4. NIDDK - https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease(external link) (last access: 31 March 2017). 5. WNMDT - http://www.whonamedit.com/doctor.cfm/1711.html(external link) (last access: 18 May 2017).

SYN: Wilson's syndrome, hepatolenticular disease, hepatolenticular degeneration.
S: TERMIUMPLUS - https://goo.gl/gB9c4b(external link) (last access: 18 May 2017)

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