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Table 1 General characteristics comparison according cohorts

From: Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Baseline characteristic Cohort A N = 45 (%)(Dx ≤1994) Cohort B N = 53 (%)(Dx ≥ 1995) Total (n = 98) N (%) Diff.
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
  1. Dx diagnosis, pts patients