Wilsons disease

Question 1

What are the clinical manifestations of wilson’s disease?

Answer 1

1. Liver
   a. Hepatitis
   b. Cirrhosis
   
   2. Neurological
      a. Basal ganglia degeneration
      b. Speech and behavioural disturbance often first manifestation
      c. Also: asterixis, chorea, dementia, parkinsonism
   3. Kayser-Fleischer rings
      a. Green-brown rings at periphery of iris
      b. Due to copper accumulation in Descemet membrane
      c. Present in 50% with isolated hepatic disease and 90% with neurological disease
   4. Renal tubular acidosis
   5. Haemolysis
      
      6. Blue nails

Question 2

What is the mode of inheritance?

Answer 2

Autosomal recessive

Caused by APT7B gene, located on Chromosome 13

Question 3

What are the tests to assess for wilson’s disease?

Answer 3

1. Slit-lamp examination
   
   2. Reduced serum caeruloplasmin
   3. Reduced total serum copper with elevated free copper
   4. Increased 24hr urinary copper excretion
      
      5. Genetic assay

Question 4

What is the treatment?

Answer 4

Penicillamine - chelates copper

Trientine hydrochloride - chelating agent