GASTROENTEROLOGY ARTICLE OF THE WEEK
March 23, 2006
Ferenci P. Wilson’s Disease. Clin Gastroenterol Hepatol 2005;3:726-733
1. Wilson’s disease
a. Is caused by a deficiency of ceruloplasmin
b. is characterized by impaired excretion of copper from the hepatocyte into the blood
c. Is an autosomal recessive disorder
d. At the cellular level, copper overload primarily affects mitochondrial function
e. There are over 200 mutations that can lead to Wilson’s disease
True or False
2. A low ceruloplasmin level is the gold-standard for the diagnosis of Wilson’s Disease
3. Biliary excretion of copper is the only mechanism to eliminate copper from the body
4. Mutation analysis is a useful test to diagnose Wilson’s Disease if the condition is suspected.
5. Ceruloplasmin is used to carry copper to various tissues, ATP7B transports copper to apo-ceruloplasmin to produce ceruloplasmin.
6. The presence of Kayser-Fleischer rings correlates with CNS involvement in Wilson’s Disease, but may be absent in up to 50% of those with only liver disease.
7. In Wilson’s disease 24 hr. Urine copper is markedly increased, and is diagnostic of the disease
8. Increased copper in a liver biopsy sample is diagnostic of Wilson’s Disease