Case Report

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH

Table 1

Range of values displayed when numerous results are available.

MeasureReferenceDaughterMother

Calcium8.4–10.2 mg/dL10.1.–11.110.2–11.3
Ionized calcium4.4–5.5 mg/dL5.75.8–6.0
Creatinine0.52–1.04 mg/dL0.54–0.690.5–0.61
Chloride/phosphate ratio33–4135
Phosphorus2.5–4.5 mg/dL2.1–3.43.1–3.3
Magnesium1.6–2.3 mg/dL2.2–2.42.2
Intact PTH10–65 pg/mL13–2412–42
25-OH vit DVariable ng/dL20–2225–42
1,25-OH vit D18–72 pg/mL72–9467–81
24 hour urine calcium (grams creatinine/24 h)103 (1.27 g Cr),84 (1 g Cr)
105 (1.65 g Cr)90 (1.02 g Cr)
Ca/Cr clearance ratio0.0040.004
PTH by dilution24, 24 (1 : 2), 27 (1 : 4)
Midmolecule PTH10–25 nLmeq/mL1110
ACE9–67 U/L3438
Alk phos-bone specific4.7–17.8 mcg/L8.9
CTX64–640 pg/mL239

ACE, angiotensin converting enzyme; PPD, purified protein derivative; PTH, parathyroid hormone; CTX, collagen type 1 C-telopeptide.