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Wilson Disease- Table 5


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  • 1. Wilson Disease Amanda Waltman Christopher De Miranda Michelle Pinto- Martinez David Draper Period 2 Group 5
  • 2. What is Wilson Disease ? Wilsons disease is a rare genetic disease that requires the patient to inherit two abnormal copies of the gene ATP7B. In other words both parents must be carriers (have one abnormal copy of this gene). The chances of getting this disease is about 1 in 40,000 people world wide. The chances of being a carrier is about 1 in 90. It affects men, women and all races equally. Wilson disease Is a genetic disorder that prevents the body from expelling excess copper. Copper builds up in the liver, brain, kidneys, and eyes. Over time the copper causes irreversible organ damage. If left untreated this can be fatal.
  • 3. Signs & SymptomsLiver  swelling of the liver or spleen  jaundice, or yellowing of the skin and whites of the eyes  fluid buildup in the legs or abdomen  a tendency to bruise easily  Fatigue Neurologic  problems with speech, swallowing, or physical coordination  tremors or uncontrolled movements  muscle stiffness  behavioral changes Other  Anemia  low platelet or white blood cell count  slower blood clotting, measured by a blood test  high levels of amino acids, protein, uric acid, and carbohydrates in urine  premature osteoporosis and arthritis
  • 4. Kayser-Fleischer Rings Kayser-Fleischer rings are brown/gold rings (generally a little lighter than rust) that form around the edge of the iris and cornea. They appear in both eyes Caused by copper deposits in stroma.
  • 5. When do symptoms appear? Where does it affect?  Symptoms generally  It affects the appear between ages 6 to liver, brain, kidneys and 40, but can start as early eyes. as 2 and as late as 72.  In the eyes it affects the  When you see symptoms iris, cornea, and stroma. may depend on your diet
  • 6. What causes Wilson Disease?  Wilson disease is caused by the inability to filter copper from the body.  This is brought on by two pairs of mutated ATP7B gene.  Copper builds up over time inside the body, causing copper damage.
  • 7. Diagnosis Wilson disease is diagnosed by a number of laboratory and physical test. They look forKayser-ischer rings. A special light called a slit lamp is used to look for Kayser-Fleischer rings in the eyes. Kayser- Fleischer rings are present in almost all people with Wilson disease who show signs of neurologic damage but are present in only 50 percent of those with signs of liver damage alone Laboratory test measure the amount of copper in the blood stream.
  • 8. Treatment The first thing they do is remove the excess copper in the body. The drugs d-penicillamine (Cuprimine) and trientine hydrochloride (Syprine) release copper from organs into the bloodstream. People with Wilson disease should reduce their dietary copper intake. They should not eat shellfish or liver, as these foods may contain high levels of copper Pregnant women should take a lower dose of d-penicillamine or trientine hydrochloride during pregnancy to reduce the risk of birth defects
  • 9. Resources Schilsky, M.D, M. (2009, May ). Wilson Disease. Retrieved from Mayo Clinic Staff. (2011, August 2). Wilsons disease. Retrieved from K Gilroy, R., & Katz, J. (2011, December 9). Wilson disease . Retrieved from overview Lorincz, M., &Huq, M. (2011, March 29). Wilson disease. Retrieved from