Table 2.
Copper levels and molecular results of 10 WD patients
| Case | CP | Serum copper | Urinary copper | REC | Hepatic copper values | Pathogenic mutations |
|---|---|---|---|---|---|---|
| N > 0.20 g/L | N > 12;7 µmol/L | N < 0.40 µmol/L | N < 8% | N < 4 µmol/g of dry weight liver tissue | ||
| 1 | <0.01 | 7.98 | no data | 18.9 | 8.5 |
NG_008806.1(ATP7B_v001): c.2866‐1521G>A NM_000053.4: c. 3551T>C, p.(Ile1184 Thr) |
| 2 | 0.04 | No data | 4 | No data | No data |
NG_008806.1(ATP7B_v001): c.2866‐1521G>A NM_000053.4: c.3207C>A, p.(His1069Gln) |
| 3 | 0.05 | 6 | 4.95 | No data | No data |
NG_008806.1(ATP7B_v001): c.2866‐1521G>A NM_000053.4: c.3121C>T, p.(Arg1041Trp) |
| 4 | 0.09 | No data | 1.2 | No data | No data |
NG_008806.1(ATP7B_v001): c.2866‐1521G>A NM_000053.4: c.3207C>A, p.(His1069Gln) |
| 5 | 0.02 | 5.3 | 2.8 | No data | 21.6 |
NG_008806.1(ATP7B_v001): NM_000053.4: c.2866‐1521G>A NM_000053.4: c.3182G>A |
| 6 | 0.08 | 3.85 | 1.14 | 31.2 | No data | NM_000053.4: c.122A>G p.(Asn41Ser) |
| 7 | 0.09 | 8.89 | 2.95 | 30.7 | No data | NM_000053.4: c.3207C>A p.(His1069Gln) |
| 8 | 0.11 | 6.11 | 0.73 | 12 | 2.1 |
c.3083_3085delinsG, p.(Lys1028Serfs*40) |
| 9 | N (but hemolysis) | N (but hemolysis) | 3.1 | No data | 15.7 | No mutation |
| 10 | 0.14 | 4.19 | 1.88 | No data | 4.9 | No mutation |
CP = Ceruleoplasmin level, Cu hep (µmol/g), REC, Relative exchangeable copper.