Skip to main content

Table 1 Patient’s biological findings at admission

From: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

Laboratory investigations

Results

Reference value (Unit)

CBC

  

 Erythrocytes

3.04

3.50–5.50 106 (/µl)

 Hemoglobin

9.4

12.0–16.0 (g/dl)

 Hematocrit

26.8%

36.0–50.0 (%)

 Leukocyte

6.47

4.00–10.00 103 (/µl)

 Neutrophil

0.65

1.50-7.00 103 (/µl)

 Eosinophils

0.25

0.02–0.50 103 (/µl)

 Basophils

0.05

< 0.06 103 (/µl)

 Lymphocytes

4.53

1.00–5.00 103 (/µl)

 Monocytes

0.99

0.15–1.00 103 (/µl)

 Platelets

354

150–400 103 (/µl)

Biochemistry tests

  

 Glycemia

0.12

0.7–1.10 (g/l)

 Creatinine

3.7

5–11 (mg/l)

 Urea

0.13

0.13–0.43 (g/l)

 Blood calcium

107

84–102 (mg/l)

 Urine calcium

> 240

67–200 (mg/l)

 AST

128

5–34 (UI/l)

 ALT

59

0–55 (UI/l)

 Total Bilirubin

< 1.7

3.0–12.0 (mg/l)

 Conjugated Bilirubin

< 1.0

1.0–6.0 (mg/l)

 Free Bilirubin

< 0.7

< 1.9 (mg/l)

 CRP

8.7

0.0–5.0 (mg/l)

 Triglycerides

7.1

< 1.7 (g/l)

 Albumin

48

27–41 (g/l)

 Pre-prandial hyperlactatemia

67

5–20 (mg/dl)

 Post-prandial hyperlactatemia

83

5–20 (mg/dl)

  1. Altered parameters are in bold. CBC: Complete Blood Count. AST: Aspartate Aminotransferase. ALT: Alanine Aminotransferase