Wilsons disease

Question 1

What is wilsons disease

Answer 1

Autosomal recessive disorder characterised by excess copper depositon in tissues

Question 2

Main organs targeted in wilsons

Answer 2

Brain, liver, cornea of eyes

Question 3

Features of wilsons disease

Answer 3

Liver dysfunction - cirrhosis, acute liver failure
CNS symptoms
Renal tubular acisodis
Haemolysis
Blue nails
Kayser fleishcer rings
Sunflower cataracts on slit lmap

Question 4

Eye signs in wilsons

Answer 4

Kayser fleischer rings
Sunflower cataracts on slit lamp - doesnt impair vision

Question 5

What CNS sympomts can get in wilsons

Answer 5

Basal ganglia degeneration
First - speech, behavioural and psych
Thne:
Asterixis, chorea, parkinsonism, dementia
Asymmetrical tremor
Poor coord + clumsy
Neuropsych illness, nuerotic behaviour

Question 6

Tests for wilsons disease

Answer 6

Unusual liver or neuro abnormalities
24 urinary copper
Sreum free copper
Hepatic copper from liver biopsy
Fenetic screening cpmplex and scoring system

Question 7

Can you dignose wilsons with kayser fleischer rings and low serum caeruloplasmin <0.1g/L

Answer 7

Yes

Question 8

Treatment of wilsons first line

Answer 8

D-penicillamine - chelates copper

Question 9

What gene is affected in wilsons

Answer 9

ATP7B on chromosome 13

Question 10

Presentation vs age

Answer 10

10-25 years onset of symptoms
Children - liver disease
Young adults - neuro

Question 11

What does wilsons cause in kidneys

Answer 11

Renal tubular acidosis esp fanconis syndrome

Question 12

What would you find if investigations were positive for wilsons

Answer 12

Reduced serum caeruloplasmin + serum copper
Increased 24 hour urinary copper excretion

Question 13

2ndry treatments for wilsons

Answer 13

Trientine hydrochloride
Tetrathiomolybdate - investigating

Question 14

Wilsons disease on bloods

Answer 14

Reduced serum caeuloplasmin + total erum copper (free copper is increased0