|
Gender M/F (%)
|
27/18 (60/40)
|
31/22 (58.5/41.5)
|
58/40 (59.2/48.8)
|
NS
|
|
Age at Dx (years)
|
9.0 (05–16.5)
|
5.7 (0.2–15.9)
|
7.2 (0.2–16.5)
|
p < 0.001
|
|
Patient/sibling (%)
|
39/6 (86.7/13.3)
|
47/6 (88.7/11.3)
|
86/12 (87.7/12.3)
|
NS
|
|
GD1/GD3
|
40/5 (88.9%/11.1%)
|
40/13 (75.5%/24.5%)
|
80/18 (81.6/18.4)
|
NS
|
|
Pediatric Gaucher Severity Index score
|
|
Mild
|
22 (53.7)
|
29 (60.4)
|
51 (52.0)
|
NS
|
|
Moderate
|
7 (17.1)
|
17 (35.4)
|
24 (24.5)
|
NS
|
|
Severe
|
12 (29.3)
|
2 (4.2)
|
14 (14.3)
|
P = 0.045
|
|
Symptoms and signs at diagnosis
|
|
Splenomegaly
|
45 (100)
|
47 (88.6)
|
92 (93.9)
|
NS
|
|
Hepatomegaly
|
27* (60%)
|
40 (75.5)
|
67 (68.4)
|
p = 793
|
|
Splenectomy
|
15 (39.5%)
|
4 (7.8)
|
19 (19.4)
|
p < 0.001
|
|
Anemia or thrombocytopenia
|
30 (83.3%)
|
30 (66.7)
|
60 (61.2)
|
p = 0.047
|
|
Mean Hb (range) g/dL
|
11.4 (8.0–14.7)
|
11.3 (6.9–13.8)
|
11.4 (6.9–14.7)
|
NS
|
|
Mean Platelets count (range)
|
89.3 (21–200) × 109/L
|
128.3 (44–363) × 109/L
|
112.9 (21–363)
|
p < 0.001
|
|
Other characteristics & biomarkers
|
|
Bone symptomatology
|
21 (50) (3missing)
|
12 (26.7) (8 missing)
|
33 (37.9, 11 missing)
|
p < 0.001
|
|
Bone pain (only)
|
5 (11.9)
|
3 (6.7)
|
8 (9.2)
|
NS
|
|
Vascular bone complication
|
16 (38.1%)
|
9 (20.0)
|
25 (25.5)
|
p = 0.025
|
|
Chitotriosidase
|
17,277 (1,123–65,497)
|
11,038 (370–38,882)
|
12,437 (370–65497)
|
NS
|
|
CCL18/PARC
|
271 (151–552)
|
1,273 (105–3763)
|
1,023 (105–3,763)
|
NS
|
|
Genotypes GD1
|
|
N370S/N370S
|
1 (2.2)
|
1 (1.9)
|
2 (2.0)
|
NS
|
|
N370S/L444P
|
13 (28.9)
|
14 (26.4)
|
27 (27.5)
|
NS
|
|
N370S/Other
|
25 (55.6)
|
22 (41.5)
|
47 (47.9)
|
NS
|
|
Other/Other
|
1 (2.2)
|
3 (6.7)
|
4 (4.08)
| |
|
Genotypes GD 3
|
|
L444P/L444P
|
0 (0)
|
7 (13.2)
|
7 (7.1)
|
-
|
|
L444P/Other
|
3 (6.7)
|
2 (3.8)
|
5 (5.1)
|
NS
|
|
Other/Other
|
2 (4.4)
|
4 (7.5)
|
6 (6.12)
|
NS
|
