Table 2.
Biochemical data of affected (S5*, S2* and S1*) and unaffected (S3 and S4) siblings and their mother. Z-scores were calculated from age-matched data from the local community.
| Variable |
Affected subjects |
Unaffected subjects |
||||||
|---|---|---|---|---|---|---|---|---|
| S5* | S2* | S1 * | S3 | S4 | Mother | |||
| Age (y) | 12a | 18b | 2a | 7b | 4a | 11 | 15 | 35 |
| Ht (cm) | 120.4 | 129.0 | 86.5 | 106.1 | 87.1 | 128.5 | 146.8 | 154.7 |
| (Z-Score) | (− 2.85) | (− 2.94) | (− 0.85) | (− 1.57) | (− 0.79) | (− 1.97) | (– 1.04) | (− 0.43) |
| Wt (kg) | 29.5 | 46.6 | 13.7 | 24.5 | 13.5 | 43.9 | 54.5 | 62.1 |
| (Z-Score) | (− 0.69) | (0.47) | (0.19) | (1.08) | (0.11) | (1.30) | (1.47) | (0.22) |
| 25OHD (nmol/L) | 56.0 | 58.7 | 36.6 | 43.7 | 64.4 | 58.3 | 61.7 | 91.7 |
| (Z-Score) | (0.02) | (0.76) | (− 1.04) | (− 1.27) | (0.43) | (0.18) | (0.98) | (2.32) |
| TALP (U/L) | 3291 | 294 | 689 | 1269 | 742 | 355 | 145 | 109 |
| (Z-Score) | (35.00) | (− 0.03) | (5.95) | (14.10) | (6.80) | (0.66) | (− 1.13) | (− 0.26) |
| 1,25(OH)2D (pmol/L) | 339 | 341 | 385 | 461 | – | 323 | 339 | 486 |
| (Z-Score) | (1.06) | (0.91) | (1.68) | (4.67) | – | (0.86) | (0.88) | (2.37) |
| PTH (pg/mL) | 14.0 | 23.0 | – | 45.1 | – | 34.0 | 60.0 | 29.0 |
| (Z-Score) | (− 2.66) | (− 2.29) | – | ( 0.28) | – | (− 0.90) | (− 0.01) | (− 0.87) |
| P (mmol/L) | 0.71 | 0.55 | 0.67 | 0.42 | 0.53 | 1.30 | 1.00 | 1.12 |
| (Z-Score) | (− 3.57) | (− 3.89) | (− 5.49) | (− 5.75) | (− 6.33) | (− 0.51) | (− 1.84) | (0.02) |
| Ca (mmol/L) | 2.46 | 2.33 | 2.39 | 2.40 | 2.42 | 2.44 | 2.39 | 2.09 |
| (Z-Score) | (1.08) | (− 0.22) | (0.11) | (− 0.26) | (0.46) | (0.86) | (0.46) | (− 1.12) |
| FGF23 (RU/mL) | 57.3 | 44.6 | 223.8 | 64.9 | 629.9 | 54.5 | 32.9 | 33.5 |
| (Z-Score) | (0.84) | (− 0.01) | (1.21) | (0.43) | (2.49) | (0.74) | (− 0.41) | (− 0.52) |
| TmP:GFR (mmol/L) | – | 0.58 | – | 0.50 | 0.63 | 1.58 | 1.20 | 1.27 |
| (Z-Score) | – | (− 3.68) | – | (− 5.03) | (− 4.00) | (− 0.23) | (− 1.52) | (0.42) |
| uCa:uCr (mol/mol) | – | 0.20 | – | 0.38 | 1.05 | 0.32 | 0.15 | 0.22 |
| (Z-Score) | – | (0.85) | – | (1.27) | (1.76) | (1.40) | (0.59) | (1.19) |
| Thacher X-ray score | 4 | F | 8 | 10 | 7 | – | – | – |
a = first presentation, b = off treatment follow-up, – = not determined, F = fused growth plate.