Table 2.
Longitudinal study: clinical and biological data
| n | 7 |
| Male | 3 |
| Age (y) | 23 [3‐52] |
| Mutations | |
| N370S heterozygous | 6 |
| N370S homozygous | 0 |
| D409H homozygous | 1 |
| R163X/I206M | 0 |
| Undetermined | 0 |
| Pre‐ERT | Post‐ERT | P value | |
|---|---|---|---|
| Organomegaly | |||
| Hepatomegaly | 7 (100%) | 1 (14%) | .0047 |
| Splenomegaly | 7 (100%) | 0 | .0006 |
| Bone involvement | |||
| At sampling date | 2 (33%) | 2 (33%) | ns |
| Biological measurements | |||
| Hb (g/dL) | 12.9 [11.1‐13.8] | 14.4 [12.3‐15.3] | .03 |
| Htc (%) | 36.3 [30.4‐39.3] | 40.9 [35‐43.4] | .03 |
| Platelet count (103/mm3) | 91 [57‐163] | 191 [106‐262] | .02 |
| CCL18 (pg/µmol) | 722 [663‐765] | 150 [85‐317] | ns (.12) |
| Chitotrisidase activity (nmol/h/mL) | 13 964 [1470‐17 500] | 435 [62‐8765] | .02 |
The characteristics and biological data for 7 GD patients were compared before (pre‐) and at least one year after (post‐) ERT (pre‐post ERT) with velaglucerase alfa. We considered bone involvement as significant for patients with bone pains and/or radiologic (MRI) skeletal manifestations including bone infarcts, avascular osteonecrosis, fractures and lytic lesions as new bone event at the time of sampling. The values are expressed as the median [extremes] and (percentages). The P values were determined using the Mann‐Whitney test to compare continuous variables between GD UT and GD ERT patients. Fisher's exact test was used to analyze categorical data in samples, that is splenomegaly and hepatomegaly. All characteristic and biological parameters, that is splenomegaly, hepatomegaly, Hb, Htc, platelet count, CCL18 (C‐C motif chemokine ligand 18) levels and chitotriosidase activity were usually obtained on the day of blood sampling or within the previous few weeks.