Table 1 Variables
Demographics | |
Gender | M/F |
Birthdate | dd/mmm/year |
Age at diagnosis | years |
Cosanguinity | Y/N |
Family history of PD | Y/N |
Death date | Y/N |
Survival | years |
Clinical Data | |
GD-DS3 | mild moderate severe |
Spleen removal | Y/N |
Liver size | cm |
Spleen size | cm |
Previous bone crisis | Y/N |
Image Data | |
S-MRI | 0-> 9 |
DEXA | Z score T score |
Analytical Data | |
Hemoglobin | g/dL |
WBC | 109/L |
Platelets | 109/L |
B12 vitamin level -serum concentrations, | pg/mL |
Iron concentration | mg/dL |
Cholesterol | mg/dL |
Triglycerides | mg/dL |
HDL-cholesterol | mg/dL |
LDL-cholesterol | mg/dL |
AST/ALT | UI |
GGT/ alkaline phosphatase | UI |
Bilirrubin | mg/dL |
IgG-, IgA-, IgM | mg/dL |
Diagnosis | |
GCase activity | nmol/mL/h |
GBA genotype | NM_000157 |
Biomarkers | |
ChT | nmol/mL/h |
CHIT1 genotype NM_0003465 | Homozygous Heterozygous N |
CCL18/PARC | ng/mL |
GluSph | ng/mL |
Ferritin | mcg/L |
Follow-up | (5-25 y) |
Age to start therapy | years |
Type of therapy | ERT SRT N |
New bone crisis | Y/N |
Joint replacement | Y/N |
Neoplasia | Y/N |
PD | Y/N |
Other comorbidities | Y/N |