Table 3 Laboratory tests: comparison between patients with or without Gaucher disease
From: GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
Gaucher patients (n = 14) | Non-Gaucher patients (n = 140) | P value | |
|---|---|---|---|
β-Glucocerebrosidase activity on DBS (pmol punch−1 h−1) | 1.27 ± 0.94 | 6.5 ± 4.5 | < 0.01 |
β-Glucocerebrosidase activity on cellular homogenate (leukocytes, nmol/mg/h) | 2.4 ± 2.2 | 16.9 ± 4.1 | |
β-Glucocerebrosidase activity on cellular homogenate (lymphoblasts, nmol/mg/h) | 1.2 ± 1.2 | 9.9 ± 7.2 | |
β-Glucocerebrosidase activity on cellular homogenate (Z-score) | − 0.49 ± 0.2 | 0.69 ± 0.86 | < 0.01 |
Hb (g/dl) | 10.4 ± 1.96 | 12.3 ± 2.41 | < 0.01 |
Plt (number/mmc) | 118,357 ± 89,918 | 167,600 ± 116,771 | 0.07 |
WBCs (number/mmc) | 6090 ± 3833 | 9116 ± 29,733 | 0.27 |
Serum iron (mcg/dL) | 61.6 ± 29 | 76.4 ± 44 | 0.14 |
Serum ferritin (mcg/L) | 191.7 ± 134.9 | 80.9 ± 158.3 | 0.01 |
Serum transferrin (mg/dL) | 231.6 ± 178.1 | 256.9 ± 100.3 | 0.68 |
Serum Total Cholesterol (mg/dL) | 117 ± 30.5 | 129.5 ± 40.2 | 0.29 |
ALT (U/L) | 40.5 ± 22.4 | 36.7 ± 73.7 | 0.68 |
AST (U/L) | 58.6 ± 72.3 | 42.9 ± 105.4 | 0.51 |
Lyso-Gb1 (ng/mL) | 1080.1 ± 739.3 | 14.9 ± 6.5 | < 0.01 |
CHIT (nmol//mL/h) | 5358.6 ± 4949.8 | 35.1 ± 30.3 | 0.02 |