Table 3.
Biochemical Measures of Bone and Mineral Metabolism in ARHR2 patients and family members
| Parameter | Unit | C1+/− | C2+/+ | C3−/− | C4+/+ | C5−/− | C6+/− |
|---|---|---|---|---|---|---|---|
| Serum | |||||||
| Calcium | mmol/L | 2.22 | 2.34 | 2.28 | 2.24 | 2.18 | 2.18 |
| Phosphate | mmol/L | 0.83 | 1.39 | 0.63 (↓) | 1.57 | 0.56 (↓) | 1.11 |
| Osteocalcin | μg/L | 12.1 | 46.4 | 40.7 | 70.1 | 41.4 | 30.1 |
| BAP | μg/L | 8.5 | 58.3 | 179.1 | 96.9 | 186.3 | 20.1 |
| 25‐OH‐D | μg/L | 8.6 (↓) | 13.8 (↓) | 10.4 (↓) | 14.9 (↓) | 7.4 (↓) | 8.5 (↓) |
| PTH | μg/L | 75.0 | 62.6 | 59.2 | 48.7 | 82.2 | 59.1 |
| Cross‐links | nmol/mmol | 6 | 28 | 77 (↑) | 22 | 34 (↑) | 12 |
| cFGF23 | kRU/L | 141 (↑) | 46 | 265 (↑) | 44 | 123 (↑) | 130 (↑) |
BAP = bone alkaline phosphatase; PTH = parathyroid hormone.
Parameters outside age‐ and sex‐specific reference range are in bold.