Table 1.
Characteristics of the Proband and Her Siblings in 2017.*
Characteristic | Patient | Carrier Sibling† | Normal Sibling |
---|---|---|---|
Age (yr) | 58 | 59 | 60 |
Sex | Female | Male | Female |
Calcium (mg/dl) | 9.58 | 9.66 | 9.90 |
Phosphate (mg/dl) | 2.45 | 2.23 | 2.76 |
Parathyroid hormone (pg/ml) | 57 | 42 | 43 |
25(OH)D2(ng/ml) | 0.060 | 0.085 | 0.172 |
25(OH)D3 (ng/ml) | 0.019 | 13.054 | 19.483 |
Total 25(OH)D (ng/ml) | 0.079 | 13.139 | 19.655 |
24,25(OH)2D3 (ng/ml) | 0.000 | 0.312 | 0.918 |
1,25(OH)2D2 (pg/ml) | 3.6 | <1.0 | <1.0 |
1,25(OH)2D3 (pg/ml) | 2.0 | 19.5 | 55.7 |
Total 1,25(OH)2D (pg/ml) | 5.6 | 19.5 | 55.7 |
Free25(OH)D (pg/ml) | |||
Measured | 1.8 | 3.4 | 3.2 |
Calculated | <0.2 | 7.6 | 5.5 |
Vitamin D–binding protein (μg/ml) | <3.0 | 95.3 | 224.5 |
To convert the values for calcium to millimoles per liter, multiply by 0.250. To convert the values for phosphate to millimoles per liter, multiply by 0.3229. Clinical reference ranges are as follows: calcium, 8.9 to 10.2 mg per deciliter; phosphate, 2.5 to 4.5 mg per deciliter; parathyroid hormone, 12 to 88 pg per milliliter; total 25-hydroxyvitamin D (25[OH]D), 20 to 50 ng per milliliter; and total 1,25-dihydroxyvitamin D (1,25[OH]2D, also known as calcitriol), 17 to 72 pg per milliliter. No clinical reference ranges are available for free 25(OH)D or for vitamin D–binding protein. 1,25(OH)2D2 denotes 1,25-dihydroxyvitamin D2, 1,25(OH)2D3 1,25-dihydroxyvitamin D3, 24,25(OH)2D3 24,25-dihydroxyvitamin D3 (also known as secalciferol), 25(OH)D2 25-hydroxyvitamin D2, and 25(OH)D3 25-hydroxyvitamin D3 (also known as calcifediol).
Measurements were performed in one carrier sibling.