2. Wilson’s Disease
Dr.mousavi
Abadan –Khordad-1397

4. The Basics Autosomal recessive disorder Affects copper metabolism
Leads to organ damage, specifically of the liver and brain, due to buildup of copper
Easily treated if diagnosed early
Difficult to diagnose

6. 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.

8. The average human needs about milligrams of copper in their diet. Basically the size of penny.

14. Signs and Symptoms Generally begin between 1st – 3rd decade
Very variable and nonspecific
Liver disease – more common in adolescents (ages 8-16)
“Neuropsychiatric disease” – more common in young adults (very rare before age 12)

16. Other Cardiac Renal Autonomic dysfunction
Cardiomyopathy
Skeletal
Bone demineralization
Dermatologic
Acanthosis nigricans
Renal
Proximal renal tubular dysfunction (Fanconi’s syndrome)
Renal insufficiency
Nephrocalcinosis
Hematologic
Coombs negative hemolytic anemia

19. Sunflower Cataract
Copper deposition in anterior and posterior lens capsule
False positive with foreign body lodged intraocularly (chalcosis)

21. Imaging CT abnormalities 73% ventricular dilation 63% cortical atrophy
55% brainstem atrophy
45% hypodensity in basal ganglia
10% posterior fossa atrophy
Williams and Walshe

33. Treatment Goals Reduce copper accumulation by
Enhancing urinary excretion
Decreasing intestinal absorption

36. What to avoid!
People who have Wilson’s disease are on a strict diet. They cannot have a large amount of copper.

37. 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.

38. The future gene replacement therapy gene repair
Hepatocytes transplantation

39. Liver Transplant Life-saving Acute fulminant hepatic failure
Decompensated cirrhosis with progressive end stage liver disease