Table 1.
Phenotype characteristic of studied HR patients
| Pr | G | AD | BPS | H | P (mg/dl) | TRP (%) | 25(OH)D (ng/mL) | 1,25(OH)2D (pg/ml) | PTH (pg/mL) | AP (UI/l) | N | HP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 1 y 3 m | Mild | 2.9 | 28 | 87 | 1531 | |||||
| 2 | F | 3 y | Sev | -2.71 | 2.3 | 60 | 48 | 558 | N | Y | ||
| 3 | M | 9 y | Sev | -3.38 | 2.3 | 56.4 | 13.2 | 21 | 766 | N | N | |
| 4 | M | 1 y 4 m | Sev | -2.34 | 2.8 | 78.4 | 29.7 | 73 | 28 | 378 | N | N |
| 5 | F | 1 y 4 m | 2.7 | 25.3 | 12 | Y | ||||||
| 6 | F | 1 y 10 m | Mod | -4.06 | 2.1 | N | N | |||||
| 7 | M | 2 y 3 m | Mod | -3.2 | 2.9 | 76 | 175.2 | 79 | 1786 | Y | N | |
| 8 | M | 1 y 5 m | Mod | N | N | |||||||
| 9 | M | 2 y 6 m | Mod | -2.01 | 2.4 | 80 | 79 | 38.2 | 18 | 584 | Y | Y |
| 10 | F | 1 y 6 m | Mod | -2.05 | 2.7 | 91 | 52 | 791 | N | N | ||
| 11 | F | 4 m | Mild | 0.88 | 4 | 89 | 41 | 75 | 75 | 1755 | N | N |
| 12 | F | 1 y 6 m | Sev | -3.35 | 2.1 | 32 | 27.5 | 16 | 68 | 1646 | N | N |
| 13 | F | 7 y | Sev | -2.24 | 2.8 | 58.2 | 21.9 | 49 | 1699 | N | Y | |
| 14 | F | 3 y | ||||||||||
| 15 | F | |||||||||||
| 16 | F | 4 y 6 m | Mod | -1.97 | 2.5 | 52 | 28 | 29 | 991 | N | Y | |
| 17 | F | 4 y 7 m | Sev | -4.86 | 16 | 28 | 25 | 755 | N | Y | ||
| 18 | F | 1 y 7 m | Mod | -3.11 | 3.1 | 82.3 | 43 | 60 | 60 | 934 | N | N |
| 19 | F | 14 y | Sev | -3.84 | 66 | 37.5 | 42 | 534 | N | N | ||
| 20 | F | 1 y 7 m | Mild | -2.53 | 2.2 | 71 | 30.1 | 129 | 66.7 | 597 | N | Y |
| 21 | F | 2 y 8 m | Sev | -2.97 | 2.5 | 78 | 28 | 53 | 66 | 1020 | N | N |
| 22 | F | 4 y | Sev | -1.65 | 2.1 | 83 | 23 | 448 | Y | N | ||
| 23 | M | 3 y 2 m | Mod | -5.47 | 2.7 | 23 | Y | BT | ||||
| 24 | M | 1 y 2 m | Sev | -2.26 | 2.0 | 59 | 30.1 | 57 | 1010 | Y | Y | |
| 25 | F | 2 y 6 m | Sev | -2 | 2.7 | 46 | 45.2 | 53.4 | 48 | 528 | N | Y |
| 26 | F | 1 y 4 m | Mild | 0.62 | 2.5 | 73 | 76 | 60 | 1249 | N | N | |
| 27 | M | 3 y 2 m | Mod | -3.23 | 2.6 | 77.6 | 30 | 41 | 43 | 1389 | N | N |
| 28 | F | 2 y 6 m | Mild | -2.56 | 2.8 | 33 | 220 | N | N | |||
| 29 | F | 1 y 6 m | Mod | -3.1 | 2.4 | 66 | 54.2 | 39.8 | 58 | 856 | N | N |
| 30 | F | 4 y 10 m | Mod | -1.84 | 2.1 | 85 | 18 | 147 | 78 | 1513 | N | BT |
| 31 | F | |||||||||||
| 32 | F | 5 y | Sev | -3.31 | 3.1 | 59.2 | 32 | 52.3 | 1110 | N | Y | |
| 33 | M | 5 m | Sev | 0.64 | 3.7 | 62.3 | 6.6 | 13.8 | 22 | 1204 | N | N |
| 34 | F | 3 y | Mild | -4.37 | 2.2 | N | N | |||||
| 35 | F | 3 y 8 m | Mod | -2.3 | 2.6 | 75 | 39 | 14 | 49 | 1109 | N | N |
| 36 | F | 4 y 5 m | Sev | -1.95 | 3.7 | 86.7 | 31 | 56.3 | 49 | 470 | N | N |
Pr proband, G gender, AD age at diagnosis, BPS bone phenotype severity (Mod moderate, Sev severe), H height SDS, P phosphate serum levels, TRP tubular reabsorption of phosphate, 1,25(OH)2D 1,25 dihydroxi vitamin D, 25(OH)D 25 hydroxy vitamin D, PTH parathyroid hormone at diagnosis, AP alkaline phosphatase, N nephrocalcinosis after treatment, HP hyperparathyroidism (Y postreatment, BT before treatment, N no)