TABLE1.
The laboratory data of the proband.
| Measure parameters | Data (proband) | Data (mother) | Reference ranges | |
|---|---|---|---|---|
| Peripheral blood | White blood cells | 7.62×109/L | 5.17×109/L | 3.97∼9.15×109/L |
| Red blood cells | 5.11×1012/L | 4.54×1012/L | 4.09∼5.74×1012/L | |
| Hemoglobin | 149 g/L | 137 g/L | 131∼172 g/L | |
| Platelets | 373×109/L | 208×109/L | 85∼303×109/L | |
| Blood chemistry | Na | 139 mmol/L | 131 mmol/L | 130∼147 mmol/L |
| K | 3.98 mmol/L | 3.56 mmol/L | 3.5∼5.1 mmol/L | |
| Cl | 105 mmol/L | 106 mmol/L | 96∼108 mmol/L | |
| Total protein | 82 g/L | 78 g/L | 60∼83 g/L | |
| Aspartate aminotransferase | 30 u/L | 34 u/L | 8∼40 u/L | |
| Alanine aminotransferase | 53 u/L | 44u/L | 10∼64 u/L | |
| Blood urea nitrogen | 5.5 mmol/L | 4.3 mmol/L | 2.5∼7.1 mmol/L | |
| Creatinine | 63 umol/L | 65 umol/L | 62∼115 umol/L | |
| Uric acid | 478 umol/L | 330 umol/L | 160∼430umol/L | |
| Total cholesterol | 6.15 mmol/L | 4.5 mmol/L | 2.33∼5.7 mmol/L | |
| Triglyceride | 3.2 mmol/L | 1.57 mmol/L | 0.56∼1.7 mmol/L | |
| LDL | 4.13 mmol/L | 2.33 mmol/L | 1.3∼4.3 mmol/L | |
| HDL | 0.85 mmol/L | 1.6 mmol/L | 0.8∼1.8 mmol/L | |
| Apolipoprotein A1 | 1.3 g/L | 1.58 g/L | 1.06∼1.88 g/L | |
| Apolipoprotein B | 1.39 g/L | 1.03 g/L | 0.46∼1.13 g/L | |
| Lipoprotein (a) | 0.15 g/L | 0.13 g/L | <0.3 g/L | |
| Apolipoprotein E | 5.8 mg/dl | 3.3 mg/dl | 2.9∼5.3 mg/dl | |
| sdLDL-C | 1.9 mmol/L | 0.8 mmol/L | 0.246∼1.393 mmol/L | |
| Free fatty acid | 0.75 mmol/L | 0.25 mmol/L | 0.1∼0.45 mmol/L | |
| Troponin I | 2.8 pg/ml | 1.3 pg/ml | <30 pg/ml | |
| BNP | 58.9 pg/ml | 55.1 pg/ml | 5∼115 pg/ml | |
| Glucose | 5.1 mmol/L | 4.1 mmol/L | 3.9∼6.1 mmol/L | |
| C-reactive protein | 8.23 mg/L | 1.16 mg/L | 0∼6 mg/L | |
| Coagulation study | PT -INR | 0.92 | 0.82 | 0.8∼1.2 |
| APTT | 28.6 S | 98 S | 22.3∼38.7 S | |
| Fibrinogen | 2.1 g/L | 3.3 g/L | 1.8∼3.5 g/L | |
| D-dimer | 3.92 mg/L | 0.23 mg/L | <0.55 mg/L | |
| Protein C activity | 116% | 110% | 70∼140% | |
| Protein S activity | 88.5% | 92.2% | 63∼130% | |
| Antithrombin activity | 50% | 44% | 85∼120% | |
| Prothrombin activity | 85.3% | 5% | 50∼150% | |
| FDP | 12 mg/L | 0∼5 mg/L | 0∼5 mg/L | |
| LAC | 1.1 | <1.2 | <1.2 | |
| Anti-cardiolipin antibody | IgG | — | — | |
| IgA | — | — | ||
| IgM | — | — |
LDL, low-density lipoprotein cholesterol; HDL, high-density lipoprotein cholesterol; sdLDL-C, small dense low density lipoprotein cholesterol; BNP, N-terminal B-type natriuretic peptide precursor; PT-INR, prothrombin time international normalized ratio; APTT, activated partial thromboplastin time; FDP, fibrinogen degradation products; LAC, lupus anticoagulant.