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 |