Clinical and biologic parameters of the studied patients
| Pat. no. . | Age (y) . | Age at diagnosis (y) . | ERT start (age in y) . | SMG . | HMG . | Clinical skeletal manifestations . | Radiologic (MRI) skeletal manifestations . | Hb (g/dL) . | MCV (fL) . | Platelet count (× 109/L) . | Chitotriosidase activity (nmol/h/mL) . | Ferritinemia (μg/L) . | Gammaglobulinemia (g/L) . | Genotype . | Transferrin saturation percentage . | Performed experiments . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 7 | 4 | yes (7) | + | + | − | − | 13.4 | 74 | 77 | 18 600 | 66 | 6,3 | N370S/L444P | NA | ah, al, e, p, m, df, hr |
| 2 | 5 | 2 | no | + | + | − | − | 11.4 | 77 | 91 | 7400 | 254 | 21 | NA | NA | al, e, p, m, hr |
| 3 | 8 | 2 | yes (8) | + | + | − | − | 12 | 75 | 131 | 13 300 | 148 | 10.5 | N370S/1263del55 | 27 | ah, al, e, p |
| 4 | 7 | 4 | no | + | + | − | − | 10.8 | 74 | 81 | 4500 | 331 | 22 | N370S/1265-1317del55 | 11 | ah, al, e, p |
| 5 | 12 | 11 | yes (12) | + | − | bone pains | BI | 10.8 | 80 | 100 | 11 250 | 498 | 10.9 | NA | 14 | ah, al, e, p |
| 6 | 11 | 11 | no | + | + | − | − | 11.8 | 74 | 84 | 11 900 | 348 | 13 | ?/? | NA | ah, al, e, p , m , hr |
| 7* | 3 | 3 | yes (3) | + | + | − | − | 9.9 | 56 | 178 | 24 450 | 19 | 6.65 | R163X/I260M | 5 | ah, al, e, p, m, df |
| 8 | 16 | 7 | no | + | − | − | − | 11.1 | 91 | 106 | 2780 | 419 | 10.9 | N370S/? | 24 | ah, al, e, p, m |
| 9 | 16 | 7 | no | + | − | − | − | 11.5 | 91 | 114 | 2260 | 437 | 11.1 | N370S/? | 18 | ah, al, e, p, m |
| 10 | 21 | 12 | yes (22) | + | − | − | VBC | 13.9 | 84 | 69 | 23 600 | 638 | 10.5 | N370S/? | NA | ah, al, e, p, m, hr |
| 11 | 1 | 1 | yes (1) | + | + | − | − | 11.5 | 67 | 99 | 25 100 | 214 | 11.2 | D409H/D409H | NA | m, hr, df |
| 12 | 63 | 57 | yes (64) | + | + | − | − | 12.8 | 84 | 104 | 7750 | 2141 | 11.9 | N370S/? | 22 | ah, al, e, p |
| 13 | 77 | 77 | yes (78) | + | + | bone pains | BI | 14.2 | 91 | 152 | 6200 | 1145 | 10.1 | NA | 55 | ah, al, e, p |
| 14 | 64 | 64 | no | + | − | − | − | 13.6 | 91 | 145 | 6700 | 578 | 11.5 | N370S/N370S | NA | ah, al, e, p, m, hr |
| 15 | 32 | 32 | yes (33) | + | − | − | BI | 16.1 | 81 | 172 | 800 | 771 | 10.5 | N370S/N370S | NA | ah, al, e, p |
| 16 | 67 | 67 | yes (67) | + | + | − | BI | 11.9 | 88 | 35 | 22 000 | 2500 | 12 | N370S/L444P | 24 | al, e, p, df |
| 17 | 45 | 45 | yes (45) | + | − | − | − | 15,3 | 86 | 101 | 1900 | 201 | 7.5 | N370S/D218A | 27 | ah, al, e, p, df |
| 18 | 47 | 47 | no | + | − | − | NA | 11 | 76 | 136 | 5250 | 18 | 21.7 | N370S/N370S | NA | ah, al, e, p, m, df |
| 19 | 29 | 9 | yes (27) | + | + | − | − | 15.8 | 90 | 150 | NA | 575 | 15.5 | N370S/L444P | 30 | al, e, p, m, df |
| 20 | 49 | 49 | no | + | + | − | BI | 12.5 | 89 | 102 | 36 500 | 308 | 15.2 | NA | 30 | m, hr |
| 21 | 29 | 6 | no | + | − | bone pains | BI | 12 | 84 | 143 | 5** | 1008 | 14.2 | N370S/N370S | 24 | m, hr |
| 22 | 42 | 42 | no | − | − | − | − | 13.2 | 87 | 148 | 790 | 99 | 14.5 | N370S/N370S | 28 | m, hr |
| Pat. no. . | Age (y) . | Age at diagnosis (y) . | ERT start (age in y) . | SMG . | HMG . | Clinical skeletal manifestations . | Radiologic (MRI) skeletal manifestations . | Hb (g/dL) . | MCV (fL) . | Platelet count (× 109/L) . | Chitotriosidase activity (nmol/h/mL) . | Ferritinemia (μg/L) . | Gammaglobulinemia (g/L) . | Genotype . | Transferrin saturation percentage . | Performed experiments . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 7 | 4 | yes (7) | + | + | − | − | 13.4 | 74 | 77 | 18 600 | 66 | 6,3 | N370S/L444P | NA | ah, al, e, p, m, df, hr |
| 2 | 5 | 2 | no | + | + | − | − | 11.4 | 77 | 91 | 7400 | 254 | 21 | NA | NA | al, e, p, m, hr |
| 3 | 8 | 2 | yes (8) | + | + | − | − | 12 | 75 | 131 | 13 300 | 148 | 10.5 | N370S/1263del55 | 27 | ah, al, e, p |
| 4 | 7 | 4 | no | + | + | − | − | 10.8 | 74 | 81 | 4500 | 331 | 22 | N370S/1265-1317del55 | 11 | ah, al, e, p |
| 5 | 12 | 11 | yes (12) | + | − | bone pains | BI | 10.8 | 80 | 100 | 11 250 | 498 | 10.9 | NA | 14 | ah, al, e, p |
| 6 | 11 | 11 | no | + | + | − | − | 11.8 | 74 | 84 | 11 900 | 348 | 13 | ?/? | NA | ah, al, e, p , m , hr |
| 7* | 3 | 3 | yes (3) | + | + | − | − | 9.9 | 56 | 178 | 24 450 | 19 | 6.65 | R163X/I260M | 5 | ah, al, e, p, m, df |
| 8 | 16 | 7 | no | + | − | − | − | 11.1 | 91 | 106 | 2780 | 419 | 10.9 | N370S/? | 24 | ah, al, e, p, m |
| 9 | 16 | 7 | no | + | − | − | − | 11.5 | 91 | 114 | 2260 | 437 | 11.1 | N370S/? | 18 | ah, al, e, p, m |
| 10 | 21 | 12 | yes (22) | + | − | − | VBC | 13.9 | 84 | 69 | 23 600 | 638 | 10.5 | N370S/? | NA | ah, al, e, p, m, hr |
| 11 | 1 | 1 | yes (1) | + | + | − | − | 11.5 | 67 | 99 | 25 100 | 214 | 11.2 | D409H/D409H | NA | m, hr, df |
| 12 | 63 | 57 | yes (64) | + | + | − | − | 12.8 | 84 | 104 | 7750 | 2141 | 11.9 | N370S/? | 22 | ah, al, e, p |
| 13 | 77 | 77 | yes (78) | + | + | bone pains | BI | 14.2 | 91 | 152 | 6200 | 1145 | 10.1 | NA | 55 | ah, al, e, p |
| 14 | 64 | 64 | no | + | − | − | − | 13.6 | 91 | 145 | 6700 | 578 | 11.5 | N370S/N370S | NA | ah, al, e, p, m, hr |
| 15 | 32 | 32 | yes (33) | + | − | − | BI | 16.1 | 81 | 172 | 800 | 771 | 10.5 | N370S/N370S | NA | ah, al, e, p |
| 16 | 67 | 67 | yes (67) | + | + | − | BI | 11.9 | 88 | 35 | 22 000 | 2500 | 12 | N370S/L444P | 24 | al, e, p, df |
| 17 | 45 | 45 | yes (45) | + | − | − | − | 15,3 | 86 | 101 | 1900 | 201 | 7.5 | N370S/D218A | 27 | ah, al, e, p, df |
| 18 | 47 | 47 | no | + | − | − | NA | 11 | 76 | 136 | 5250 | 18 | 21.7 | N370S/N370S | NA | ah, al, e, p, m, df |
| 19 | 29 | 9 | yes (27) | + | + | − | − | 15.8 | 90 | 150 | NA | 575 | 15.5 | N370S/L444P | 30 | al, e, p, m, df |
| 20 | 49 | 49 | no | + | + | − | BI | 12.5 | 89 | 102 | 36 500 | 308 | 15.2 | NA | 30 | m, hr |
| 21 | 29 | 6 | no | + | − | bone pains | BI | 12 | 84 | 143 | 5** | 1008 | 14.2 | N370S/N370S | 24 | m, hr |
| 22 | 42 | 42 | no | − | − | − | − | 13.2 | 87 | 148 | 790 | 99 | 14.5 | N370S/N370S | 28 | m, hr |
ERT start (age in years): “no” means that the patient did not and still does not meet the criteria for ERT; “yes” is used for patients who did not receive ERT prior to our study and who started ERT due to GD severity either at the time of blood sampling or during the months following the study. Clinical skeletal manifestations: “+” indicates patients who experienced bone pains or at least 1 bone crisis. Radiologic (MRI) skeletal manifestations: bone deformations and medullary infiltration were considered insignificant findings for our study (“−” was used in this case); we used “BI” for patients whose skeletal MRI revealed at least 1 bone infarct, either painful or not in the disease history, and “VBC” for vertebral body collapse”. Biologic parameters (ie, hemoglobinemia, MCV, platelet count, chitotriosidase activity, ferritinemia, and gammaglobulinemia, transferin saturation percentage) reported here are the results of the last recorded data, usually obtained the day of blood sampling for the study or a few weeks before. Genotype: “?” indicates the mutation was not identified despite screening of the most frequent mutations of the GBA gene. Performed experiments: ah adhesion to HMECs, al adhesion to laminin, e Lu/BCAM expression, p Lu/BCAM phosphorylation, m RBC morphologies, df membrane deformability, hr hemorheology.
SMG indicates splenomegaly; HMG, hepatomegaly; Hb, hemoglobin; and MCV, mean corpuscular volume.
This patient has type 3 Gaucher disease.
This patient has a constitutional chitotriosidase deficiency.