Wilson’s disease
Description:
Wilson Disease is autosomal recessive; which means that both parents have to be carriers for a child to have the disease. When you have Wilsons Disease, copper accumulates in the tissues and prevents the body from getting rid of the extra copper. This disease also affects your nervous system and may cause liver disease.

Inheritance:
This disease has been mapped to chromosome 13. The condition is inherited in an autosomal recessive pattern. In order to inherit it, both parents of an individual must carry an affected gene. Mutations can be detected in 90% of cases. 60% are homozygous for ATP7B mutations.



Symptoms:
People who have Wilsons Disease will show these symptoms:
· Liver disease
· Swelling of spleen
· Yellowing of the skin
· Fluid buildup in the legs
· Tendency to bruise easily
· Fatigue
· Anemia
Copper will accumulate in the nervous system and show other symptoms including:
· Behavioral changes
· Tremor
· Problems with speech
Other symptoms include:
· Anemia
· Blood clogs slowly





Daily Life:






Diagnosis:
Diagnosed through physical examination and laboratory tests. Laboratory tests measure the amount of copper in the blood, urine, and liver tissue. There is a visible sign known to be associated with Wilsons Disease: a golden ring around the eyes. This illness may be misdiagnosed because it is rare and similar to other conditions.



Treatment:
Lifelong treatment is needed to control Wilson’s disease. The patient diagnosed with the condition needs to take d-penillamine and trientine hydrochloride. When symptoms improve, maintenance therapy begins. This therapy includes taking zinc and low doses of the previously mentioned medicines. Blood and urine will be monitored to make sure copper is at a safe level. If the disease is not treated the patient will likely die.


Research:
The National Institute of Diabetes and Digestive and Kidney Diseases support research for Wilsons Disease. There is a new anti-copper drug called tetrathlomolybdate which is found just as effective but will not harm the patient neurologically.


Additional Facts:
This disorder is named after Samuel Alexander Kinnier Wilson who first diagnosed the illness in 1912. Both male and females can get the disease and about 1 in every 40,000 people has been diagnosed. There is a 25% chance each pregnancy of a carrier will have the disorder. Eastern Europeans, Sicilians, and Southern Italians are most common to inherit the disease, but it may occur in other ethnic groups.



Punnett Square:

Leslie_B_Punnet_Square.PNG





Pedigree Chart
Leslie_B_Pedigree_Chart.png




Pictures:
clinical-symptoms-of-wilson-s-disease2.jpg
Copper build-up in a patient's brain.


Wilson’s-disease1.jpg
Copper build-up around the eyes.



Resources:

The following websites were used to obtain this information.
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/
http://en.wikipedia.org/wiki/Wilson's_disease
http://answers.yahoo.com/question/index?qid=20100330090217AAojyJy