Table 2 Signs and symptoms history of patients with Gaucher disease
Patient number | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
Sex | M | M | M | F |
Age | 2 | 1 | 12 | 1 |
Height (cm) | 88 | 81 | 130 | 73 |
Weight (kg) | 15 | 14 | 33.5 | 8.8 |
Splenomegaly(palpation) | – | + | + | + |
Hepatomegaly(palpation) | – | + | + | + |
Splenomegaly(US) | + | + | megalosplenia | megalosplenia |
Hepatomegaly (US) | – | + | + | + |
Development delay | – | – | – | + |
CNS involvement | – | – | – | – |
History of bone pain | – | – | + | – |
History of fracture | – | – | – | – |
PLT (× 109/L) | 71 | 157 | 71 | 54 |
Hb (g/L) | 105 | 74 | 121 | 87 |
WBC (×109/L) | 4.17 | 6.85 | 4.83 | 6.55 |
RBC (× 1012/L) | 3.99 | 3.9 | 5.02 | 3.46 |
ALT (U/L) | 21.7 | 12.8 | 18 | 92 |
AST (U/L) | 62.8 | 81.3 | 41 | 134 |
HDL (mmol/L) | 0.39 | 0.4 | ND | 0.25 |
Ferritin (ng/ml) | 342.21 | 189.3 | ND | ND |
GD cell in bone marrow | + | + | + | + |
DBS value (nmol/h.ml) | 0 | 3.01 | 0.07 | 2 |
Enzyme level in leukocytes (nmol/h.mg) | 1.56 | 1 | 2.6 | 0.38 |
GBA mutation | N370S/L444P + A456P | R131C/L264I | R48W/R163X | A100Cfs*7/D399E |