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What is Wilson's disease?

Wilson's disease is an inherited disorder where there is excessive amounts of copper in the body. This causes a variety of effects, including liver disease and damage to the nervous system. Wilson's disease causes the body to retain copper. The liver of a person who has Wilson's disease does not release copper into bile as it should. Bile is a liquid produced by the liver that helps with digestion. As the intestines absorb copper from food, the copper builds up in the liver and injures

liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

Under normal conditions, copper that finds its way into the body through the diet is processed within the liver. This processed form of copper is then passed into the gallbladder, along with the other components of bile (a fluid produced by the liver, which enters the small intestine in order to help in digestive processes). When the gallbladder empties its contents into the the first part of the small intestine (duodenum), the copper in the bile enters and passes through the intestine with the waste products of digestion. Copper is then passed out of the body in stool. In Wilson's disease, copper does not pass from the liver into the bile, but rather begins to accumulate within the liver. As copper levels rise in the liver, the damaged organ begins to allow copper to flow into the bloodstream, where it circulates. Copper is then deposited throughout the body, building up, in particular, in the kidneys, the brain and nervous system, and the eyes. Wilson's disease, then, is a disorder of copper toxicity.

The Wilson's disease gene (WND) has been mapped to chromosome 13 (13q14.3) (2) and is expressed primarily in the liver, kidney, and placenta but has also been found in the heart, brain, and lung, albeit at much lower levels. The gene codes for a P-type ATPase that transports copper into bile and incorporates it into ceruloplasmin. The mutant form of WND expressed in people with Wilson's disease inhibits the release of copper into bile. Bile is a liquid produced by the liver that helps with digestion. As the excretion of copper from the body is thus impaired, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

More information on Wilson's disease

What is Wilson's disease? - Wilson's disease is an inherited disorder where there is excessive amounts of copper in the body leading to dementia and muscle control loss.
What causes Wilson's disease? - Wilson's disease causes the body to absorb and retain excessive amounts of copper. The deposits of copper cause tissue damage, death of the tissues, and scarring.
What're the symptoms of Wilson's disease? - Symptoms of Wilson's disease are dementia, drooling, slurred speech, temper outbursts and violent tremors.
How is Wilson's disease diagnosed? - Diagnosis of Wilson's disease begins with a medical history and physical exam. Other tests are also useful.
What's the treatment for Wilson's disease? - The goals of treatment of Wilson's disease are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder.
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