Table 3.
Genotype-phenotype correlation at diagnosis
| Type of mutation | AD | H | P (mg/dl) | TRP (%) | 1.25(OH)2D (pg/ml) | 25(OH)D (ng/ml) | PTH (pg/ml) | ALP (UI/l) |
|---|---|---|---|---|---|---|---|---|
| Deleterious (n = 30) | 41.18 ± 33.27 (n = 28) | -2.81 ± 1.23 (n = 24) | 2.61 ± 0.45 (n = 24) | 61.39 ± 19.76 (n = 22) | 40.93 ± 30.73 (n = 16) | 41.79 ± 42.05 (n = 14) | 45.35 ± 17.61 (n = 20) | 943.00 ± 451.18 (n = 22) |
| Plausible (n = 6) | 21.83 ± 18.53 (n = 6) | -1.48 ± 1.80 (n = 6) | 2.81 ± 0.67 (n = 6) | 80.14 ± 8.80 (n = 5) | 78.46 ± 36.27 (n = 6) | 43.15 ± 19.13 (n = 6) | 59.83 ± 17.76 (n = 6) | 1114.16 ± 495.77 (n = 6) |
| P values | 0.08 | 0.11 | 0.53 | 0.028 | 0.013 | 0.30 | 0.06 | 0.48 |
AD age at diagnosis (months), 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, ALP alkaline phosphatase. All parameters were assesed at diagnosis