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Table 2 Laboratory results (comparison among father and his affected son at genetic evaluation time)

From: A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

 

Patient I:1

Patient’s affected son II:3

Age at diagnosis

70 years old

41 years old

s-Ca total (n.v. 8.8-10.6)

12.96 mg/dl

10.3 mg/dl

S-Ca++ (n.v. 1.12-1.31)

1.62 mmol/l

1.30 mmol/l

s-PO4 (n.v. 2.7-4.5)

2.2 mg/dl

3.3 mg/dl

s-PTH (n.v. 5–40)

19.4 pg/ml

23.5 pg/ml

25(OH)vitamin D (n.v. 30–100)

40.7 ng/ml

12.3 ng/ml

U Ca (v.n. <4 mg/kg)

315 mg/24 h

195 mg/24 h

Cr Clearance (n.v. 70 120 ml/min)

55 ml/min

107 ml/min

Ca/Cr ratio

0.031

0.012