Wilson’s Disease Yurani Farfan Mr. Trefz Genetics

Wilson’s Disease? Wilson’s disease is a genetic disorder in which the body is receiving extra copper in the body tissues. The body receives copper from certain foods like mushrooms, turnip greens, spinach, eggplant, cashews, summer squash and most other with enriched vitamins. In Wilson disease, copper builds up in the liver, brain, eyes, and other organs. Too much of high level copper can cause life-threatening organ damages and poisoning in the body tissues.

More Info about the ATP7B Gene Recent studies showed that copper transporting gene ATP7B, which in its mutated form causes Wilson's disease, and hope this would lead to the design of better therapies for this disorder.

Wilson’s Disease

What does Copper do to the body? Copper plays a big part in our metabolism and also maintains the functions in the enzymes in our bodies. Copper has another job in bone development, tissue reconnection, hair and skin development. The average human needs about milligrams of copper in their diet. Basically the size of penny.

Who can get Wilson Disease? Wilsons disease is a rare and common disease found in humans. People who have Wilson’s disease inherit two copies of a ATP7B gene that are abnormal from the parent gene. About 1 to 40,000 people have Wilson’s Disease. It affects men and women. The start of Wilson’s Disease is around the ages 5 to 35. But other studies showed that it can happen at the age of 2 and 72.

Symptoms Of Wilson’s Disease Symptoms of this disease are… Swelling of the Spleen Yellowing in the skin and whites in the eyes. Fluid build up in the legs and lower abdomen You can bruise easily Get tired really easily Muscle stiffness Problems with speaking, swallowing and coordination Low level of white blood cell count High level of amino acids, protein, uric acids. Mood swings

Exams & Tests When having a test for Wilson’s disease, doctors will check for… Yellow in iris Limited movement in the eyes Physical examination of central nervous system, coordination, loss of thinking, stiffness in muscles, and memory loss. Liver or spleen disorders Lab test will also look into white blood cell count, copper, and uric acid. Problems in the liver will be tested for High AST & ALT, high bilirbin, PT and PTT And Low Albumin

Diagnosis Patients who have Wilson’s Disease should be treated early. Because patients who are treated early won’t have to suffer from complications of poisoning in the body or even death. Doctors will check for a urine sample of the patient, eye exam, blood copper level, and blood test.

Treatment Wilson’s Disease is a life long disease. Therapy will have to be in place. The therapy removes excess copper in the body before any poising in the body occurs. Medication is provided for Wilson’s disease. Women who are pregnant should take a less amount of the medication. The medication is d- penicillamine (Cuprimine) and trientine hydrochloride (Syprine). These both drugs release the cooper in the organs so they don’t build up.

What to avoid! People who have Wilson’s disease are on a strict diet. They cannot have a large amount of copper. They should avoid Chocolate, Shellfish, dried fruit, Mushrooms, and Nuts. When drinking water people with this disease must have their water checked out just in case it has copper.

Biliography "ATP7B." Encyclopædia Britannica Encyclopædia Britannica Online. 11 Nov