Wilson Disease Flashcards
1
Q
Definition of Wilson disease
A
- Excessive accumulation of copper
- Caused by mutation in Wilson disease protein on chromosome 13
- AR inheritance
2
Q
Features of Wilson disease
A
- Hepatic problems (i.e. hepatitis, cirrhosis)
- Neurological problems (i.e. dysarthria, dystonia, Parkinsonism)
- Psychiatric problems (i.e. depression, psychosis)
- Kaser-Fleischer rings in cornea can be present
- Haemolytic anaemia
- Renal tubular acidosis
- Osteopenia
3
Q
Diagnosis and management of Wilson disease
A
- Serum caeruloplasmin (low in Wilson disease)
- Liver biopsy for copper content
- Managed with copper chelation using penicillamine and trientene
