Wilson's Disease Flashcards
What is Wilson’s disease?
Wilson’s disease is a rare autosomal recessive disorder characterized by impaired copper metabolism, leading to copper accumulation in various tissues, particularly the liver and brain.
What gene mutation is responsible for Wilson’s disease?
Mutations in the ATP7B gene located on chromosome 13 cause Wilson’s disease.
How does the ATP7B gene mutation affect copper metabolism?
The mutation impairs the function of ATPase, a protein responsible for transporting copper across intracellular membranes and facilitating its excretion into bile, leading to copper accumulation.
What is the estimated prevalence of Wilson’s disease?
Wilson’s disease is considered rare, with a prevalence of approximately 1 in 30,000 individuals.
What are common hepatic manifestations of Wilson’s disease?
Hepatic manifestations include hepatomegaly, jaundice, elevated liver enzymes, and in severe cases, cirrhosis or acute liver failure.
What are common neurological symptoms of Wilson’s disease?
Neurological symptoms can include tremors, dysarthria, dystonia, and difficulties with coordination.
What psychiatric symptoms may be associated with Wilson’s disease?
Psychiatric manifestations may involve depression, personality changes, and cognitive decline.
What is a Kayser-Fleischer ring?
A Kayser-Fleischer ring is a dark ring encircling the iris, resulting from copper deposition in Descemet’s membrane of the cornea, commonly associated with Wilson’s disease.
How is Wilson’s disease inherited?
Wilson’s disease is inherited in an autosomal recessive pattern, requiring mutations in both copies of the ATP7B gene.
What laboratory findings are indicative of Wilson’s disease?
Laboratory findings may include low serum ceruloplasmin, elevated hepatic copper concentration, and increased urinary copper excretion.
What role does ceruloplasmin play in Wilson’s disease diagnosis?
Ceruloplasmin is a copper-carrying protein; low levels can suggest Wilson’s disease but are not solely diagnostic.
How is a liver biopsy used in diagnosing Wilson’s disease?
A liver biopsy can measure hepatic copper concentration, aiding in the diagnosis of Wilson’s disease.
What imaging findings might be seen in Wilson’s disease?
Brain MRI may show hyperintensities in the basal ganglia, thalamus, or brainstem, indicative of copper deposition.
What is the primary treatment approach for Wilson’s disease?
Treatment involves copper chelation therapy to remove excess copper and zinc supplementation to reduce copper absorption.
Name a commonly used chelating agent in Wilson’s disease management.
Penicillamine is a commonly used chelating agent in the treatment of Wilson’s disease.
