Wilson's Disease Flashcards
Define Wilson’s disease.
Wilson’s Disease is an autosomal recessive (AR) defect in hepatocellular copper (Cu) transport.
What is the prevalence of Wilson’s Disease? Is it more or less common than haemochromatosis?
It affects 1 in 30,000 individuals, making it rarer than haemochromatosis.
At what age does Wilson’s Disease typically present?
It usually presents in individuals under 35 years of age.
What is the genetic mutation in Wilson’s Disease?
It is caused by mutations in the ATP7B gene located on chromosome 13.
Describe copper metabolism.
Where does copper deposit in Wilson’s Disease?
Excess copper deposits in:
Liver → Causing hepatocellular damage and cirrhosis.
Brain → Leading to neurological symptoms.
Eyes → Seen as Kayser-Fleischer rings.
Describe the full pathogenesis of wilson’s disease.
List the symptoms of wilson’s disease.
What in the panda sign in the context of Wilson’s disease?
List the exam findings in wilson’s disease.
List some ddx for wilson’s disease.
List the diagnostic investigations for wilson’s disease.
How will you grade Wilson’s disease?
Outline the prevention and lifestyle management of wilson’s disease.
What is the SEs of the following drugs:
1. penicillamine
2. trientine
Outline the pharmacological and surgical management of wilson’s disease.
surgical - liver transplant if criteria met
Outline the acute management of wilson’s disease.
Outline the FULL management of wilson’s disease.
What are the complications of wilson’s disease?
