Wilsons Disease Research Paper

Wilson’s Disease Research Essay Wilson’s disease, also called hepatolenticular degeneration, is a very rare disease that only affects about 20,000 people in the United States. Wilson’s disease is inherited when your liver, brain, or other vital organs contain too much copper. The average person starts to form Wilson’s disease between the ages 12 and 23. Copper is a trace metal found in many foods that is very critical in the development of bones, collagen, and healthy nerves. Any excess copper is excreted, or removed, through bowel. However, people who absorb too much copper are not able to eliminate copper properly and the copper starts to accumulate to life-threatening levels. Wilson’s disease is an autosomal disease, meaning it affects any chromosome other than a sex chromosome. Wilson’s disease is hereditary and it is a recessive gene, meaning both parents have to have a

Being tested for Wilson’s Disease can require a few different tests. The first test would be blood and urine test. Blood tests work to help monitor the copper levels in your liver while urine tests help to see how much copper is taken out of your body. There is also an eye test. The eye test is useful because the ophthalmologist can check your eyes for golden brown circles/rings. If you have these, this is a sign of too much copper in your eyes. Doctors have also associated Wilson’s Disease with sunflower cataract that can be seen in an eye exam. The next test doesn’t have a specific name, but a doctor inserts a needle through your skin and draws a small sample of liver tissue so they can send it to a lab and the liver tissue can be tested for any excess copper. The last main test is genetic testing. A blood test can identify the genetic mutation in the chromosome that causes Wilson’s Disease. This is also good because knowing that Wilson’s Disease runs in your family, siblings can also be treated before they start any harmful