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.
| Measure | Reference | Daughter | Mother |
| Calcium | 8.4–10.2 mg/dL | 10.1.–11.1 | 10.2–11.3 | Ionized calcium | 4.4–5.5 mg/dL | 5.7 | 5.8–6.0 | Creatinine | 0.52–1.04 mg/dL | 0.54–0.69 | 0.5–0.61 | Chloride/phosphate ratio | | 33–41 | 35 | Phosphorus | 2.5–4.5 mg/dL | 2.1–3.4 | 3.1–3.3 | Magnesium | 1.6–2.3 mg/dL | 2.2–2.4 | 2.2 | Intact PTH | 10–65 pg/mL | 13–24 | 12–42 | 25-OH vit D | Variable ng/dL | 20–22 | 25–42 | 1,25-OH vit D | 18–72 pg/mL | 72–94 | 67–81 | 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 ratio | | 0.004 | 0.004 | PTH by dilution | | 24, 24 (1 : 2), 27 (1 : 4) | | Midmolecule PTH | 10–25 nLmeq/mL | 11 | 10 | ACE | 9–67 U/L | 34 | 38 | Alk phos-bone specific | 4.7–17.8 mcg/L | 8.9 | | CTX | 64–640 pg/mL | 239 | |
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ACE, angiotensin converting enzyme; PPD, purified protein derivative; PTH, parathyroid hormone; CTX, collagen type 1 C-telopeptide.
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