1. Karissa Clark, Pete Goodale, and Anne Shively
Samuel Alexander Kinnier Wilson
(1878–1937)
2. An inherited disorder in which the body’s
tissues have too much copper.
The excess copper damages the liver and
nervous system.
Copper accumulates in the liver, brain,
kidneys, and eyes.
Copper damage causes to death of tissues
and scarring, which leads to organ failure.
Named for its discoverer, Samuel Alexander
Kinnier Wilson (1878–1937)
3. Wilson’s disease is a rare, inherited disorder. If both
parents carry an abnormal gene, there is a 25% chance of
an affected pregnancy.
The gene involved is ATP7B.
Occurs in all groups of people, but most common in
Europeans, Sicilians, and southern Unaffected
Carrier
Unaffected
Carrier
Father Mother
Italians.
Appears in people under 40.
Symptoms begin to show by age 4.
Unaffected Unaffected Unaffected Affected
25% Carrier Carrier 25%
25% 25%
4. Abnormal posture of limbs
Mobility issues
Confusion and delirium
Emotional or behavioral changes
Enlargement of the abdomen
Speech impairment
Vomiting blood
Jaundice
5. Slit lamp eye examination
Limited eye movement
Rusty or brown rings around iris
• Physical
– Loss of coordination, muscle control
– Liver or spleen disorders
• Lab tests
– Serum copper, serum uric acid,
urine copper
6. Life long treatment is needed to control Wilson’s
disease.
If not treated early, Wilson’s disease is fatal.
7. Goal is to reduce copper in the body
Chelation
A life-long procedure where certain medications
bind to copper and help move it through the
body.
Examples include Penicillamine, Trientine, and
Zinc acetate
• A liver transplant may be considered if
severely damaged.
8. 1. Name two locations in the body that copper
accumulates.
2. True or false: Wilson’s disease is genetic.
3. List three symptoms of the disease.
4. True or false: Wilson’s disease is not fatal.
5. What is one way to test for Wilson’s?
9. PubMed Health
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH000178
9/
Mayo Clinic http://www.mayoclinic.com/health/wilsons-
disease/DS00411
NINDS
http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm
UM Medical Center
http://www.umm.edu/ency/article/000785.htm
Wilson Disease Association
http://www.wilsonsdisease.org/
