|
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
|
- PLT: platelets; Hb: haemoglobin;WBC: white blood cell; ALT: Alanine aminotransferase; AST: aspartate aminotransferase; HDL: high density lipoprotein; ND: not detected; DBS: dried blood spot
