Table 1. Laboratory findings of affected members of the pedigree. aSerum OC and CTX levels were measured in propositus after treatment of Ibandronate. bBone mineral density (BMD) of propositus' niece was detected using DXA of Hologic QDR-2000, while the other individuals were detected using DXA of GE-Lunar Prodigy.
| Propositus | Father | Brother | Brother's daughter | Propositus' son | Normal range | |
|---|---|---|---|---|---|---|
| Subject | III4 | II1 | II5 | IV3 | IV2 | |
| Age (years) | 49 | 74 | 46 | 16 | 24 | |
| Age of onset (years) | 38 | 30 | 28 | 10 | - | |
| Alkaline phosphatase (ALP) (IU/L) | 293.0 | 136.0 | 710.0 | 240.0 | 205.0 | 15.0–112.0 |
| BUN (mmol/L) | 4.5 | 5.8 | 4.6 | 3.8 | 4.6 | 2.5–6.4 |
| Cr (μmol/L) | 75.0 | 93.0 | 77.0 | 63.0 | 88.0 | 53.0–115.0 |
| Calcium (mmol/L) | 2.36 | 2.43 | 2.48 | 2.79 | 2.53 | 2.08–2.60 |
| Phosphate (mmol/L) | 1.35 | 1.11 | 1.24 | 1.82 | 1.33 | 0.8–1.6 |
| PTH (ng/mL) | 57.8 | 68.3 | 75.6 | 34.8 | 40.6 | 15.0–65.0 |
| OC (ng/mL) | 24.4a | 188.3 | 259.2 | 171.2 | 235.2 | 10–23 |
| CTX (pg/mL) | 369.6a | 2915.0 | 3669.0 | 1343.0 | 1806.0 | 100–650 |
| Lumbar spine BMD (L1-4) Z score | −3.7 | −4.7 | −4.1 | −2.53 | −1.6b | |
| Femoral neck BMD (left) Z score | −0.9 | - | - | −2.03 | 0.7b | |
| Total hip BMD (g/cm ) Z score | −0.4 | - | - | −2.44 | −0.4b |