UpToDate خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده:
4
September 2025
| Typical clinical symptoms and signs | ||
| KF rings (slit lamp examination) | ||
| Present | 2 | |
| Absent | 0 | |
| Neuropsychiatric symptoms suggestive of WD (or typical brain MRI*) | ||
| Present | 2 | |
| Absent | 0 | |
| Non-immune (Coombs negative) hemolytic anemia (plus high serum copper) | ||
| Present | 1 | |
| Absent | 0 | |
| Laboratory/other tests | ||
| 24-hour urinary copper (in the absence of acute hepatitis) | ||
| Normal | 0 | |
| 1 to 2× ULN | 1 | |
| >2× ULN | 2 | |
| Normal, but >5× ULN after D-penicillamine challenge | 2 | |
| Liver copper quantitative | ||
| Normal | –1 | |
| Up to 5× ULN | 1 | |
| >5× ULN | 2 | |
| Rhodanine-positive hepatocytes (only if quantitative copper measurement is not available) | ||
| Present | 1 | |
| Absent | 0 | |
| Serum ceruloplasmin (nephelometric assay, normal: >0.2 g/L) | ||
| Normal (>0.2 g/L) | 0 | |
| 0.1 to 0.2 g/L | 1 | |
| <0.1 g/L | 2 | |
| Disease-causing mutations detected | ||
| On both chromosomes | 4 | |
| On 1 chromosome | 1 | |
| None | 0 | |
| Total score (not available: scores 0) | Assessment of the WD-diagnosis score | |
| 4 or more | Diagnosis highly likely | |
| 2 to 3 | Diagnosis probable, do more investigations | |
| 0 to 1 | Diagnosis unlikely | |
KF: Kayser-Fleischer; ULN: upper limit of normal.
* Or typical abnormalities at brain magnetic resonance imaging.
Adapted from: Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23:139.
Updated with additional information from:
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