Q/ What laboratory findings would you see in a patient with Wilson's disease and to what...
Q/ What laboratory findings would you see in a patient with
Wilson's disease and to what extent do they
assist in making a definitive diagnosis?
Homework Answers
There are various clinical procedures-
1. Blood and urine test- levels of copper as well as ceruloplasmin will be high.
Normal levels- Cu -<0.6 micromole/24 hr
Ceruloplasmin- > 200mg/L
Wilson's disease-
Cu- > 1.06 micromole/24 hr
Ceruloplasmin- <200g/L
2. Eye exam- kayser Fleischer rings are found in the eyes of the people suffering from Wilson's disease.
3. Biopsy of liver tissue can be done-
Normal- < 250micrograms per gram dry weight.
Wilson's disease- > 250 micrograms per gram dry weight
4. Cerebral imaging is also abnormal in the patients suffering from Wilson's disease.
5. Genetic testing can also be done in certain cases.
Kayser Fleischer rings give the definite confirmation.
Blood and urine test can give confirm results when done in 24 hr.
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