Ferenci scoring system for Wilson's disease
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When to use
Kayser-Fleischer rings
Absent
Present
Neuropsychiatric symptoms suggestive of Wilson's disease (or typical brain magnetic resonance imaging)
Absent
Present
Coombs-negative hemolytic anemia (+ high serum copper)
Absent
Present
Urinary copper (in the absence of acute hepatitis)
Normal
1-2x upper limit of normal
> 2x upper limit of normal
Normal, but > 5x upper limit of normal one day after challenge with 2 x 0.5 g D-penicillamine
Liver copper quantitative
Normal
Up to 5x upper limit of normal
> 5x upper limit of normal
Rhodanine pos. hepatocytes (only if quantitative copper measurement is not available)
Absent
Present
Serum ceruloplasmin (nephelometric assay, normal: > 20 mg/dL)
Normal
10-20
< 10
Mutation analysis
Disease-causing mutations on both chromosomes
Disease-causing mutations on one chromosome
No disease-causing mutation detected
Calculation
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