Wilson's Disease Flashcards by David Adey | Brainscape

Q

What chromosome is involved in Wilson’s?

A

Chromosome 13

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Q

What type of mutation is Wilson’s?

A

Autosomal recessive

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Q

What are the main features of Wilson’s?

A

Neurological problems (50%)

Hepatic problems (40%)

Psychiatric problems (10%)

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Q

What are the complications of Wilson’s?

A

Hepatitis

Cirrhosis

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Q

What signs are seen in Wilson’s?

A

Dysarthria (speech difficulties)

Dystonia (abnormal muscle tone)

Parkinsonism

Asymmetrical motor symptoms

Depression

Psychosis

Keyser fleischer rings

Haemolytic anaemia

Renal tubular acidosis

Osteopenia (loss of bone density)

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Q

How is Wilson’s diagnosed?

A

Serum caeruloplasmin (first line)

Liver biopsy (gold standard for liver involvement)

24-hr urine copper assay

Scoring systems

Low serum copper

Keyser Fleischer rings

MRI brain shows non-specific changes

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Q

What is the management of Wilson’s?

A

Copper chelation using:

Penicillamine

Trientene

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