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Flashcards in FN: Wilsons Disease Deck (11):
1

Epi

􏰀 Prevalence: 3/100,000
􏰀 Age: presents between childhood and 30 (never >56)
􏰀 Genetics: AR, ATP7B gene on Chr 13

2

Pathophysiology

􏰀 Mutation of Cu transporting ATPase
􏰀 Impaired hepatocyte incorporation of Cu into
caeruloplasmin and excretion into bile.
􏰀 Cu accumulation in liver and, later, other organs

3

Clinical features

CLANKAH
Cornea
Liver disease
Arthritis
Neurology
Kidney
abortions
Haemolytic Anaemia

4

Cornea

Kaysar-Fleischer rings (70%, may need slit-lamp)

5

Liver Disease

- children usually present with acute hepatitis
- fulminant necrosis may occur
--> cirrhosis

6

Arthritis

􏰀 Chondrocalcinosis 􏰀 Osteoporosis

7

Neurology

􏰀 Parkinsonism: bradykinesia, tremor, chorea, tics
􏰀 Spasticity, dysarthria, dysphagia
􏰀 Ataxia
􏰀 Depression, dementia, psychosis

8

Kidney

􏰀 Fanconi’s syn. (T2 RTA) → osteomalacia

9

Haemolytic anaemia

􏰀 Coombs’ negative

10

Ix

􏰀 Bloods: ↓Cu, ↓ caeruloplasmin NB. Caeruloplasmin is an acute-phase protein and may be high during infection. It may also be low protein- deficient states: nephrotic syndrome, malabsorption

􏰀 ↑ 24h urinary Cu
􏰀 Liver biopsy: ↑ hepatic Cu
􏰀 MRI: basal-ganglia degeneration

11

Rx

Diet: avoid high Cu foods: liver, chocolate, nuts
􏰀 Penicillamine lifelong (Cu chelator)
􏰁 SE: nausea, rash, ↓WCC, ↓Hb, ↓plats, lupus, haematuria
􏰁 Monitor FBC and urinary Cu excretion
􏰀 Liver Tx if severe liver disease
􏰀 Screen siblings
􏰀 􏰀

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