Table 1 Demographic and clinical characteristics of patients with Gaucher disease type 1 (n = 19)
Patient | Gender | Age (years) | Genotype | Treatment duration (years) | Current treatment | Platelets (× 109/L) | Hb (g/dL) | Lyso-Gb1 (nmol/L) | ChT activity (nmol/hr./mL) | Severity scores | |
|---|---|---|---|---|---|---|---|---|---|---|---|
SSI | DS3 | ||||||||||
1 | M | 26 | N370S/G202R | 18 | ERT | 171 | 14.9 | 234.1 | 4951 | 0 | 0.66 |
2 | F | 27 | N370S/L444P | 6 | ERT | 225 | 12.5 | 127.0 | 3095 | 1 | 0 |
3 | F | 29 | N370S / L444P | 13 | ERT | 166 | 11.5 | 61.6 | 425 | 1 | 0 |
4 | M | 30 | N370S/IVS9 + 1G > A | 19 | ERT | 149 | 15.4 | 453.0 | 1988 | 3 | 1.25 |
5 | F | 31 | N370S/RecNciI | 22 | SRT | 146 | 11.6 | 371.0 | 3699 | 0 | 2.5 |
6 | F | 32 | N370S/L461P + IVS10 + 1G > T | 28 | ERT | 162 | 12.9 | NA | 7044 | 3 | 1.06 |
7 | M | 35 | N370S/RecNciI | 21 | ERT | 212 | 16.1 | 77.0 | 1243 | 3 | 1 |
8 | F | 37 | N370S/L444P | 19 | ERT | 182 | 13.3 | 192.7 | 2306 | 0 | 0 |
9 | F | 43 | N370S/ RecNciI | 7 | ERT | 221 | 13.0 | 589.0 | 736 | 2 | 1 |
10 | M | 42 | N370S/L444R | 11 | ERT | 142 | 14.4 | 112.0 | 1194 | 0 | 0 |
11 | F | 44 | N370S/L444R | 14 | ERT | 171 | 15.0 | 122.0 | 3022 | 1 | 0.66 |
12 | M | 46 | N370S/L444P | 17 | ERT | 290 | 13.2 | NA | 2495 | 4 | 4.7 |
13 | M | 49 | N370S / L444P | 10 | ERT | 199 | 14.4 | 15.0 | 116 | 5 | 0.4 |
14 | F | 53 | E349K/S366N | 10 | ERT | 285 | 14.7 | 23.6 | 643 | 3 | 1.8 |
15 | F | 55 | N370S/RecNciI | 20 | ERT | 405 | 14.7 | 113.0 | 1216 | 5.66 | 13 |
16 | M | 61 | N370S/RecNciI | 10 | ERT | 160 | 16.1 | 64.6 | 1170 | 3 | 0 |
17 | F | 66 | N370S/RecNciI | 24 | ERT | 153 | 13.8 | 70.0 | 581 | 22 | 2.4 |
18 | M | 68 | N370S/N370S | 12 | ERT | 160 | 14.2 | 85.8 | 1529 | 0 | 0.5 |
19 | F | 71 | N370S/L444R | 11 | ERT | 309 | 13.9 | 120.6 | 257 | 10 | 4.5 |