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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. The sequence of the gene was found to be similar to sections of the gene defective in Menkes disease, another disease caused by defects in copper transport. Wilson's Disease (WD) is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. The most characteristic symptom of wilson's disease is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist's slit lamp. 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. Although copper accumulation begins at birth, symptoms of the disorder appear later in life. Symptoms usually appear around the ages of 18 to 21 years, but sometimes not until the age of 30, and in rare instances at age 50 and even beyond. Presentation before 5 years of age is extremely rare. Any person with recurrent hepatic disease and unexplained neurologic symptoms should be investigated to have Wilson's disease. Liver disease occurs in half of the patients. It may be manifested in four ways: acute hepatitis, chronic active hepative hepatitis, cirrhosis and fulminant hepatitis. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder. The diagnosis is confirmed by measurement of serum ceruloplasmin, urinary copper excretion, and hepatic copper content, as well as the detection of Kayser-Fleischer rings.
Wilson's disease can increase your risk of bone fractures and of serious infections and may greatly impair kidney function. Psychiatric and nervous system problems are common in young adults with Wilson disease. It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disease first affects the liver, and if treatment is administered early enough, damage to the nervous system is dramatically reduced. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood, and abdominal pain. They may have tremors and difficulty walking, talking and swallowing. A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. The genetic defect in Wilson's disease results in failure of the liver to rid the body of copper. The copper then builds up in the liver, the brain, and other organs. The fulminant presentation of Wilson disease is more common in females than males. Wilson's disease requires lifelong treatment. If the disorder is detected early and treated correctly, a person with Wilson's disease can enjoy completely normal health.
Causes of Wilson's disease
The common causes and risk factor's of Wilson's disease include the following:
Symptoms of Wilson's disease
Some sign and symptoms related to Wilson's disease are as follows:
Treatment of Wilson's disease
Here is list of the methods for treating Wilson's disease :
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