Wilson’s disease

Definition

Wilson's disease is a genetic disorder causing excessive accumulation of copper in the body's tissues. This leads to neurological and hepatic symptoms due to copper toxicity.

5 Must Know Facts For Your Next Test

1. Wilson's disease is autosomal recessive, meaning both parents must carry the gene for a child to be affected.
2. Copper accumulates primarily in the liver and brain, leading to symptoms like jaundice, tremors, and psychiatric disturbances.
3. The condition is diagnosed through blood tests showing low levels of ceruloplasmin and high urinary copper excretion.
4. Treatment often involves chelating agents such as penicillamine or trientine to remove excess copper from the body.
5. Dietary management includes avoiding foods high in copper such as shellfish, nuts, and chocolate.

Review Questions

• What are the primary organs affected by Wilson's disease?
• Which diagnostic tests are used to confirm Wilson's disease?
• Name two chelating agents used in the treatment of Wilson's disease.

Related terms

Chelation Therapy: A treatment technique that involves the administration of chelating agents to remove heavy metals from the body.

Ceruloplasmin: A protein that binds copper in the bloodstream; reduced levels are indicative of Wilson's disease.

Autosomal Recessive Disorder: A type of genetic disorder where two copies of an abnormal gene must be present for the disease to develop.