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

Table 2 General characteristics

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 activity^a (range)	13,604.37 (67.0–65,497.01)
CCL18/PARC concentration^b (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) GD1^d	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) GD3^d	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

^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
^bCCL18/PARC concentration was analyzed in 248 patients
^cGluSph concentration was analyzed in 77 patients
^dGBA genotype according with the reference sequence NM_000157. 4, other variants meant no c.1266A > G, neither c.1448 T > C

ISSN: 1750-1172