Skip to main content

Table 2 General characteristics

From: Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

Characteristics Total: 358 100%
Mean age at diagnosis (range) 28.1 y.o. (87–0.5)
Mean age at therapy (range) 31.5 y.o. (1-83)
ChT activitya (range) 13,604.37 (67.0–65,497.01)
CCL18/PARC concentrationb (range) 590.52 (35–3895)
GluSph concentration c 34.02 (1.10–321.06)
Serum ferritin 568. 7 (14.0–2811.0)
S-MRI mean score (range) 11.0 (2-21)
  N %
GBA genotype (NM_000157. 4) GD1d 337 94. 15
[c.1226A > G] + [c.1226A > G] 47 13.91
[c.1226A > G] + [c.1448 T > C] 113 33. 43
[c.1226A > G] + [other] 146 43. 19
[other] + [other] 31 9.47
GBA genotype (NM_000157. 4) GD3d 21 5.85
[c.1448 T > C] + [c.1448 T > C] 9 42.86
[c.1448 T > C] + [other] 7 33.33
[other] + [other] 5 23.81
Diagnosis
Index-case 276 76.88
Family study 83 23. 12
Gender
 Male 191 53.20
 Female 168 46.80
Severity score index (DS3)
 Mild 213 59.33
 Moderate 102 28.41
 Severe 27 7.52
Comorbidities
 Family history of PD 42 11.69
 Development of PD 17 4.73
 Spleen removal 65 18.10
 Bone crisis during follow-up 81 22.56
 Cancer and MGUS during follow-up 34 9.47
 Other comorbidities 85 23.68
 Dead 37 10.31
  1. aChT activity was analyzed in 313 cases, ccases with double presence of polymorphism in the gene encoding ChT (CHIT1; MIM*600031) associated with a reduction in ChT activity, causing underestimation and consequent misinterpretation and have not been considered in this section
  2. bCCL18/PARC concentration was analyzed in 248 patients
  3. cGluSph concentration was analyzed in 77 patients
  4. dGBA genotype according with the reference sequence NM_000157. 4, other variants meant no c.1266A > G, neither c.1448 T > C
\