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Table 2 Signs and symptoms history of patients with Gaucher disease

From: A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China

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
  1. 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