TABLE 2.
Leipzig Diagnostic Criteria
| Patient Number | Leipzig Score* | K-F Rings | Ceruloplasmin, mg/dL | 24-Hour Urine Copper, μg | ATP7B Mutation Analysis† | Hemolytic Anemia‡ | Liver Copper, μg/g dry weight of liver |
|---|---|---|---|---|---|---|---|
| 1 | 6 | Yes | 4 | 7583 | NA | NA | NA |
| 2 | 7 | No | 16 | 3235 | Homozygous | NA | NA |
| 3 | 5 | Inconclusive | 17 | 146 | 1 exon loci | NA | 70 |
| 4 | 5 | Yes | 23 | NA | NA | Yes | 1122 |
| 5 | 8 | Yes | 4 | 4702 | Heterozygous | Yes | NA |
| 6 | 6 | No | 13 | 17,210 | NA | Yes | 1525 |
| 7 | 10 | No | 9 | 3991 | Homozygous | NA | 1374 |
| 8 | 8 | Yes | 9 | 1094 | NA | Yes | § |
*
Leipzig score ≥4 establishes a WD diagnosis.
†
For the ATP7B mutation analysis, homozygous indicates that 2 identical ATP7B mutations were detected; heterozygous indicates that 2 different ATP7B mutations were detected; and 1 exon loci indicates that 1 ATP7B mutation was detected.
‡
From the clinical narrative.
§
Quantitation not available. Patchy and strong positive stain.