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Gastrointestinal > Wilson's Disease > Flashcards

Wilson's Disease Flashcards

1
Q

What is Wilson’s Disease?

A

Excessive accumulation of copper in the body and tissues

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2
Q

What is Wilson’s disease due to?

A

Mutation in the Wilson’s disease protein on chromosome 13
(ATP7B gene)

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3
Q

What type of inheritance is Wilson’s Disease?

A

Autosomal recessive

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4
Q

What are the features of Wilson’s disease?

A

Copper deposition in the liver

Copper deposition in the CNS

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5
Q

What does copper deposition in the liver result in?

A

Chronic Hepatitis

Liver cirrhosis

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6
Q

What does copper deposition in the CNS cause?

A

Neurological and psychiatric problems

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7
Q

How does Wilson’s disease present neurologically?

A

Concentration and co-ordination difficulties

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8
Q

How does Wilson’s disease present psychologically?

A

Mild depression to full psychosis

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9
Q

What would you see in the eyes of someone with Wilson’s disease?

A

Kayser-Fleischer rings in cornea

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10
Q

What are the other possible presentations of Wilson’s disease?

A

Haemolytic anaemia
Osteopenia
Renal Tubular acidosis
Blue nails

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11
Q

What is the gold standard for the diagnosis of Wilson’s disease?

A

Liver Biopsy for liver content

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12
Q

What would be low in someone with Wilson’s disease?

A

Low Serum Ceruloplasmin

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13
Q

What is Ceruloplasmin?

A

The protein that carries copper in the blood

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14
Q

What is the management of Wilson’s disease?

A

Copper chelation

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15
Q

How is copper chelation achieved?

A

Penicillamine

Trientene

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16
Q

What are kayser-fleisher rings?

A

Green-brown rings in the periphery of the iris

17
Q

What neurological manifestations can Wilson’s disease present with?

A

Asterixis
Chorea
Dementia
Parkinsonism

18
Q

How is the urine affeted in someone with Wilson’s disease?

A

Increased 24hr urinary copper excretion

19
Q

How is the diagnosis of Wilson’s confirmed?

A

Genetic analysis of the ATP7B gene

20
Q

What can be used to see kayser-fleisher rings?

A

Slit lamp examination

Gastrointestinal (65 decks)

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