Description

Roberts and Schilsky reported diagnostic pathways for Wilson's disease. The authors are from the Hospital for Sick Children in Toronto and Yale University.


Usual presentations:

(1) neuropsychiatric disorder

(2) liver disease

 

Initial work-up"

(1) slit lamp exam for Kayser-Fleischer rings

(2) serum ceruloplasmin in mg/dL

(3) urine copper on a 24-hour urine

 

There are 8 possible combinations for the results.

 

Parameter

Finding

Points

Kayser-Fleischer rings

absent

0

 

present

1

serum ceruloplasmin

>= LLN

0

 

< LLN

1

24-hour urine copper

<= 40 micrograms

0

 

> 40 micrograms

1

 

where:

• The molecular weight of copper is 63.546. 40 micrograms per day equals 0.63 micromoles.

 

total number of findings =

= SUM(points for all 3 tests)

 

Interpretation:

• minimum number: 0

• maximum number: 3

• A score of 0 makes the diagnosis unlikely.

• A score of 3 makes the diagnosis likely.

• Additional testing may be necessary to establish the diagnosis.

 

Additional tests may include:

(1) molecular testing, including sequencing of ATP7B

(2) copper quantification of liver biopsy (> 250 micrograms copper per gram dry weight)

 

Limitations:

• The 24 hour urine collection has to be complete.

• Serum and urine copper levels can be nonspecific.


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