Wilson's disease Treatment


Wilson's Disease is a genetic disorder that causes excessive copper accumulation in the liver or brain. It affects about one in thirty thousand people worldwide. 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 gene for Wilson's disease (ATP7B) was mapped to chromosome 13. 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. The similar sequences code for copper-binding regions, which are part of a transmembrane pump called a P-type ATPase that is very similar to the Menkes disease protein.

Liver disease is the most common symptom in children; neurological disease is most common in young adults. The cornea of the eye can also be affected: the 'Kayser-Fleischer ring' is a deep copper-colored ring at the periphery of the cornea, and is thought to represent copper deposits.

Causes of Wilson's Disease

Wilson's disease is an inherited disorder. Body copper levels are mainly controlled by the liver by excreting (getting rid of) excess copper mostly in the bile. In Wilson's disease this process fails, causing copper to build up in the body. This mainly damages the liver but can also affect other organs, especially the brain.

Symptoms of Wilson's disease

The symptoms of Wilson's disease can be neurological, psychiatric or both. Some of the symptoms are rigidity, tremors, drooling, difficulty with speech, abrupt personality change and grossly inappropriate behavior. Also, due to the copper build-up on the cornea, patients develop brownish or gray-green colored rings around the eye.

Internal symptoms include fluid buildup in the lining of the abdomen, anemia, low platelet and white blood cell count in the blood, high levels of amino acids, protein, uric acid, and carbohydrates in urine, and softening of the bones.

Treatment for Wilsons Disease

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.

Zinc and Vitamin C supplementation increases the excretion of copper. With the use of oral binders of copper eg penicillamine, Vitamin B6, and multi mineral must be taken to reduce side effects of this drug. Iron and zinc are also bound by this binder.


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