Table 1 General characteristics comparison according cohorts

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

 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

 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

 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

 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)

 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