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Table 1 The results of laboratory tests for core family members: the daughter with severe symptoms (Case 1), the son with mild-form symptoms (Case 2) and the parents

From: A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series

Test Case 1 Case 2 Mother Father NV
Hemoglobin (g/dL) (8) 13 12 14 12–16
White blood cell (1000 × cell/dL) (3.5) 9.0 6.0 8.5 4.0–11.0
Platelet (1000 × cell/dL) (20) 240 210 200 150–400
Blood sugar (mg/dL) 82 88 86 282 74–110
Blood urea (mg/dL) 26 28 22 25 14–50
Serum creatinine (mg/dL) 1.1 1.0 1.1 1.3 0.2–1.2
Serum calcium (mg/dL) 8.1 9.5 8.2 9.2 8.1–10.4
Serum phosphorous (ng/dL) 4.0 3.0 2.8 2.7 2.5–5.0
Serum alkaline phosphate (IU/L) 261 515 284 218 100–320
Serum alanine transaminase (IU/L) 17 44 35 36 <45
Serum aspartate transaminase (IU/L) 30 45 40 38 <35
Total serum bilirubin (mg/dL) 1.0 0.4 0.4 0.7 0.2–1.2
Parathyroid hormone (pg/mL) 35 32 16 25 10–65
Serum lactate dehydrogenase (IU/mL) 416 246 200 206 150–500
  1. NV, the range of normal values in healthy individuals, the parents. The bold numbers in parenthesis under Case 1 represent values outside of the normal reference range.