Table 1.
Comparison of WD screening studies (Cp: ceruloplasmin; FP: false positive).
| Hahn et al. [4] | Ohura et al. [5] | Yamaguchi et al. [6] | Kroll et al. [12] | This Study | ||
|---|---|---|---|---|---|---|
| (1993–95) | (1977–96) | |||||
| Sample size | 3667 | 2789 | 126,810 | 24,165 | 353 | 359 |
| Age range | 3 m–15 y | 1–6 y | Newborn | Late infancy to elementary school level | 3 m–18 y | 0–28 days and adult WD and carriers |
| Analytical method | Enzyme-linked immunosorbent assay | Enzyme-linked immunosorbent assay | Particle-coated fluorescence immunoassay | Enzyme-linked immunosorbent assay | Immunoturbidimetric assay | |
| Mean ± SD Cp level (mg/L) | 305 ± 95 | 124 ± 39.5 | Unknown | Unknown | 400 ± 144 | 141 ± 37.5 |
| Number of positive cases | 1 WD (32-month-old) with DBS Cp 23 mg/L | 2 WD with neonatal DBS Cp 15 mg/L and 35 mg/L, respectively |
953 FP No WD detected |
5 WD Serum Cp < 100 mg/L |
2 WD: neonatal Cp 26 mg/L and 28 mg/L, respectively | 7 adults WD (41–54 mg/L) |
| Remarks | Repeated specimen was collected. Follow up for the positive case after second testing. |
-- | Different cut-offs High default rate (22% defaulted re-examination) |
Consistent cut-off No default |
-- | -- |
| Conclusions | Measurement of Cp level in DBS proposed as a reliable method for population screening of WD | CP level in DBS from children aged 1 to 6 years as a reliable marker for early detection of WD | -- | Age of 3 years as the best point for WD mass screening | Presymptomatic screening for WD using DBS is possible, even in newborn | DBS Cp level measurement as potential marker for NBS WD |