20. Wilson disease

Question 1

what is the etiology of wilson disease ?

Answer 1

AUTOSOMAL RECECCIVE DISRODER

mutation to gene coding ATPase copper transporting beta polypeptide = ATP7B in chromosome 13

MEN more affected , with 12-23 years

Question 2

what is the pathophysiology of wilson disease ?

Answer 2

the wilson protein enzyme is found in the golgi apparatus
in the golgi the copper binds to the a cerrulopalsmin to make
cerulopalsmin which is secreted back into the plasma
and the extra copper is stored into the bile ducts

in wilson disease = the copper accumulates in the hepatocytes , cannot be excreted through bile ducts and unbound copper goes back into the blood stream

these copper - accumulate in the liver , CNS and eyes, and heart

liver = can be acute liver failure
hepatitis
cirrhosis being the final of its station

Question 3

what are the clinical features of wilson disease ?

Answer 3

hepatosmegaly
jaundice = pruritus
abdominal pain

cirrhosis:
splenomegaly
ascitis
porta hypertension , varices

cornea = kayser Fleischer rings = green brown rings

extrapyramidal motor disturbances (no sensory changes) 
dysarthria 
ataxia  
parkinsonism - tremor, slow movement, 
tremor 
behavioural changes

Question 4

diagnostics of wilson disease

Answer 4

blood = increased transaminase
reduced ceruloplasmin
increased free suerum copper but reduced total serum copper

slit lamp to check the eyes

urine test = increased copper excretion 24hr

penicillamine challenge

liver biopsy = increased copper more than 250ug/g
rubeanic acid copper staining

Question 5

dd of wilson disease

Answer 5

aminotransferase , jaundice and abdominal pain = acute viral hepatitis

Question 6

what is the treatment of wilson disease

Answer 6

low copper diet = avoid organs and shellfish and nuts and chocolate

chelating agents - penicillamine = forming copper water soluble compounds

maintenance therapy with zinc salt which induce metal binding protein in the intestinal enterocytes which decreases free copper

treatment with chelating agents should be gradual over the spa of 3-6 months = as the if the copper is withdrawn too quickly - it can exaceberate neurological symptoms

liver transplantation is the only cure