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Wilson Disease - Coggle Diagram
Wilson Disease
Symptoms
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Other symptoms
Low levels of red blood cells, which is called anemia
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High levels of protein, amino acids, and uric acid in the urine
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Diagnosis
Doctors diagnose Wilson disease through a physical exam and laboratory tests. The physical exam focuses on signs of liver disease and neurologic function.
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A special procedure called liver biopsy using a needle is done to remove a small piece of a person's liver. This sample is examined to look for damage found in Wilson disease and to measure copper content.
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Treatment
A liver transplant may be needed for patients with severe cirrhosis, acute liver failure, or other serious liver disorders.
The first steps in treatments of Wilson disease involve: removing the excess copper from the body, reducing intake of foods that are rich in copper, and treating any liver of central nervous system damage.
There are two drugs to treat Wilson disease: D-penicillamine and trientine that help remove the copper from organs and release it into the bloodstream.
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What is it?
A rare genetic condition that affects about one in 30,000 people.
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Copper builds up in the liver, brain, eyes, and other organs, which overtime leads to organ damage that may cause death.
Heredity
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A person needs to inherit two altered copies of a gene- one from each parent- to develop the disease.
Couples who are carriers of the gene for Wilson disease face a 25% chance of having a child who will develop Wilson disease and a 50% chance of having a child who is a carrier for Wilson disease.