Wilson's+Disease+(Shanice+Brown)

Wilson's Disease Fact Sheet and Flow Chart

Flow Chart 

1. Name of disease: Wilson’s disease

2. Root cause of disease: The primary cause of Wilson’s disease is that two mutant alleles of ATP7B gene found on chromosome 13-(13q14.3). Wilson’s disease is an autosomal recessive genetic disease that prevents the body from removing extra copper.

3. Affected cell types/tissues/organs/systems:

The organs that are effected by Wilson’s disease are liver, heart, kidney, eyes, bones, and central nervous system.

4. Historical background: (Include discoverer(s), famous victims, and

any historical events linked to the disease).

Samuel Alexander Kinnier Wilson discovered Wilson’s disease and described the disease as “Progressive lenticular degeneration” discovered the gene in 1912. In 1948, Prof John N. Cumings made the link with copper accumulation in both the liver and the brain (Wilson’s Disease, 2012).

5. Common symptoms:


 * Abnormal posture of arms and legs
 * Psychiatric Disorders (such as Depression, Personality Changes)
 * Dementia
 * Delirium
 * Difficulty moving arms and legs, stiffness
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Difficulty walking (ataxia)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Enlargement of the abdomen (abdominal distention)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Phobias, distress (neuroses)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Slow movements
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Slow or decreased movement and expressions of the face
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Speech impairment
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Tremors of the arms or hands
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Uncontrollable movement
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Unpredictable and jerky movement
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Weakness
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">6. Standard treatments:

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">One of the treatments for Wilson’s Disease are low copper diets which includes low intake of chocolate, shellfish, dried fruit, mushrooms, nuts, and nuts. Another form of treatment for Wilson’s Disease are chelation which includes certain medications can bind to copper and help remove it through the kidneys or stomach (Wilson’s Disease, 2012). Some of those medications consist of Penicillamine (Cuprimine, Depen) which binds to copper and leads to increased release of copper in the urine. Some other medications are Trientine (Syprine) binds the copper and increases its release through the urine and Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract (Wilson’s Disease, 2012).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">7. Current research: (Please include reference citations here).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">In a research conducted by Mattova et al, chelation polymeric beads were studied as a potential therapeutic for Wilson’s disease. The organ activity of the chelation polymeric beads were measured in rats. The results concluded that when the rat’s diet consisted of the chelation polymeric beads the copper contents in their kidney, brains, and liver reduced significantly (Mattova et al, 2014).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">8. References:

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Disease and Conditions Wilson's Disease (2014, August 28). In Mayo Clinic.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">from http://www.mayoclinic.org/diseases-conditions/wilsons-disease/basics/tests-diagnosis/con-2004

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Mattová, J., Poučková, P., Kučka, J., Škodová, M., & Vetrík, M. (2014, October). Chelating

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">polymeric beads as potential therapeutics for Wilson’s disease. European Journal of Pharmaceutical Sciences, 62, 1-7.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">What is Wilson's Disease? (2011). In EuroWilson. http://www.eurowilson.org/en/living/guide/what/index.phtml

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Wilson's Disease (2012). In Wikispaces Classroom. from https://neurowiki2012.wikispaces.com/Wilson%E2%80%99s+Disease