Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Gastroenterology > Wilsons Disease > Flashcards

Wilsons Disease Flashcards

1
Q

What type of genetic condition is Wilson’s disease? E.g. dominant/recessive

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is Wilson’s disease?

A

excessive accumulation of copper in the body tissues, particularly in the liver.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What gene is affected in Wilson’s disease and which chromosome is it found on?

A

Wilson disease protein gene
Chromosome 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the function of the Wilson disease protein?

A

It’s a copper transporting protein
Removes excesss copper from the body via the liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How is copper excreted from the body?

A

In bile

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

When does Wilson’s disease usually present?

A

Teenagers or young adults

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What does copper deposition in the liver lead to?

A

Chronic hepatitis
Can eventually lead to cirrhosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Aside from the liver where does copper commonly deposit in Wilson’s disease? What symptoms does this lead to? (2)

A

Central nervous system
Neurological and psychological symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What neurological symptoms can be seen in Wilson’s? (4)

A

Tremor
Dysarthria (speech difficulties)
Dystopia
If deposited in basal ganglia can cause Parkinsonism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What physiological symptoms are seen in Wilson’s? (4)

A

Abnormal behaviour
Depression
Cognitive impairment
Psychosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How can you differentiate PD from Parkinsonism symptoms from Wilson’s disease?

A

Parkinsonism in Wilson’s is symmetrical

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the main examination sign of Wilson’s?

A

Kayser fleischer rings
Mainly seen using slit lamp examination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the main features of Wilson’s? (6)

A

Psychiatric problems
Neurological problems
Chronic hepatitis
Haemolytic anaemia
Renal tubular damage
Osteopenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the screening test for Wilson’s and what is a positive result?

A

Serum caeruloplasmin
Low serum caeruloplasmin seen in Wilson

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is caeruloplasmin?

A

Protein that carries copper in the blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

When can the screening test for Wilson’s be falsely normal or elevated?

A

Cancer or inflammatory conditions

17
Q

What is shown on a 24hour urine copper assay in Wilson’s?

A

High urinary copper

18
Q

What is used to make a definitive diagnosis of Wilson’s?

A

Liver biopsy to asses liver copper contents and liver disease

19
Q

What is seen on an mri scan in Wilson’s?

A

Characteristic double panda sign
Although this is non-specific

20
Q

What is the main treatment of Wilson’s? Give 2 forms of this

A

Copper chelation

Penicillamine
Trientine

21
Q

What is penicillamine?

A

Used for copper chelation in Wilson’s

22
Q

How are zinc salts used in Wilson’s?

A

Inhibit copper absorption in GI tract

Gastroenterology (31 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions