1. Wilson DiseaseAmanda WaltmanChristopher De MirandaMichelle Pinto- MartinezDavid DraperPeriod 2Group 5

2. What is Wilson Disease ? Wilsons disease is a rare genetic disease that requires thepatient to inherit two abnormal copies of the gene ATP7B. Inother words both parents must be carriers (have one abnormalcopy of this gene). The chances of getting this disease is about 1 in 40,000 peopleworld 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 fromexpelling excess copper. Copper builds up in the liver, brain, kidneys, and eyes. Over timethe 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 FatigueNeurologic problems with speech, swallowing, or physical coordination tremors or uncontrolled movements muscle stiffness behavioral changesOther 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 littlelighter than rust) that form around the edge of the iris andcornea. 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 liver, brain,appear between ages 6 to kidneys and eyes.40, but can start as earlyas 2 and as late as 72. In the eyes it affects the iris, cornea, and stroma. When you see symptomsmay 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 andphysical test. They look for Kayser-ischer rings. A special light called a slitlamp is used to look for Kayser-Fleischer rings in the eyes.Kayser-Fleischer rings are present in almost all people withWilson disease who show signs of neurologic damage but arepresent in only 50 percent of those with signs of liver damagealone Laboratory test measure the amount of copper in the bloodstream. 8. Treatment The first thing they do is remove the excess copper in thebody. The drugs d-penicillamine (Cuprimine) and trientinehydrochloride (Syprine) release copper from organs into thebloodstream. People with Wilson disease should reduce their dietarycopper intake. They should not eat shellfish or liver, as thesefoods may contain high levels of copper Pregnant women should take a lower dose of d-penicillamineor trientine hydrochloride during pregnancy to reduce the riskof birth defects 9. Resources Schilsky, M.D, M. (2009, May ). Wilson Disease. Retrieved fromhttp://digestive.niddk.nih.gov/ddiseases/pubs/wilson/ Mayo Clinic Staff. (2011, August 2). Wilsons disease. Retrievedfrom http://www.mayoclinic.com/health/AboutThisSite/AM00057 K Gilroy, R., & Katz, J. (2011, December 9). Wilson disease .Retrieved from http://emedicine.medscape.com/article/183456-overview Lorincz, M., & Huq, M. (2011, March 29). Wilson disease.Retrieved from http://www.medlink.com/medlinkcontent.asp