Table 1 Description at diagnosis of the 62 Gaucher-disease patients receiving enzyme-replacement therapy
From: Bone events and evolution of biologic markers in Gaucher disease before and during treatment
Baseline characteristic | Value |
|---|---|
Sex, n (%) | |
Female | 36 (58) |
Male | 26 (42) |
Age, years, median (range) | |
First symptoms | 8 (0 to 37) |
Diagnosis | 14 (1 to 48) |
Patients diagnosed before 1991, n (%) | 47 (76%) |
Patients <15 years old at diagnosis, n (%) | 34 (55%) |
First symptoms to diagnosis interval, years, median (range) | 1 (0 to 36) |
Test leading to diagnosis, n (%) | |
Enzyme assay | 7 (11) |
Enzyme-gene sequencing | 1 (2) |
Myelogram | 26 (42) |
Bone-marrow biopsy | 4 (6) |
Bone biopsy | 2 (3) |
Hepatic biopsy | 2 (3) |
Spleen histology | 8 (13) |
Other | 1(2) |
Unknown | 11 (18) |
Phenotype, n (%) | |
1 | 58 (93) |
3 | 4 (7) |
Genotype, n (%) | |
N370S/N370S | 9 (14) |
N370S/L444P | 12 (19) |
Other | 27 (44) |
Unknown | 14 (23) |
Familial disorder, n (%) | |
Yes | 28 (45) |
No | 23 (37) |
Unknown | 11 (18) |