Table 2. Laboratory findings of the six families and three patients with HPP.
| FM1-1 | FM1-2 | FM2-1 | FM2-2 | FM3-1 | FM4-1 | FM4-2 | FM5-1 | PA-6 | PA-7 | Reference value | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Serum calcium (mmol/l) | 2.45 | 2.77 | 2.68 | 2.38 | 2.48 | 2.52 | NA | 2.33 | 2.14 | 2.48 | 2.13–2.70 |
| Serum phosphate (mmol/l) | 2.03* | 2.24* | 1.96* | 1.26† | 1.89* | 1.82* | NA | 1.43† | 1.11† | 1.19† | 1.29–1.94* |
| 0.81–1.45† | |||||||||||
| Serum ALP (U/l) | 22* | 29* | 6* | 28† | 26* | 17* | 29† | Negative‡ | 23† | 13† | 58–400* |
| 30–120† | |||||||||||
| Serum 25 (OH)D (ng/ml) | NA | NA | 30.7 | NA | 10 | 17.3 | NA | 23.3 | 15.9 | 13.7 | 8–50 |
| Serum 1,25(OH)2D (pg/ml) | 17.4 | NA | 34.29 | NA | NA | NA | NA | 47.37 | 53.87 | NA | 19.6–54.3 |
| Serum iPTH (pg/ml) | 8 | 16.6 | 12.6 | 49.2 | 8 | 54 | NA | 31.4 | 31.9 | 43.4 | 15–65 |
| 24-h urine calcium (mmol) | 0.41 | NA | 1.60 | NA | 4.64 | 2.78 | NA | 3.29 | 6.53 | 3.39 | 2.5–7.5 |
| Nephrocalcinosis | no | NA | no | NA | no | no | NA | no | yes | no |
Abnormal results were indicated in bold. Abbreviation: NA, not available.
*, Indicated the normal range for serum phosphate, serum ALP in patients from 2 to 18 years old are 1.29–1.94 mmol/l, 58–400 U/l.
†, Indicated the normal range for serum phosphate, serum ALP in adult patient are 0.81–1.45, 30–120 U/l .
‡, Phosphatase value was negative in FM5-1 after repeated measurement.