Table 1. Clinical, analytical and radiology variables before and after treatment.
| Items | Case 1. Craniometaphyseal dysplasia | Case 2. Female, Dominant Osteopetrosis | Case 3. Male. Dominant Osteopetrosis | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Baseline | Year 1 | Year 3 | Year 7 | Baseline | Year 1 | Year 6 | Baseline | Year 1 | Year 6 | |
| Z Score BMD | +6.83 (170%) | +3.9 (142%) | +1.21 (114%) | +0.7 | +6.25 (300%) | +7.91 (277%) | T score + 20.5 (305%) | +7.55 | +5.37 (295%) | +6.5 (221%) |
| pH/HCO3−/SBE (mmol/L) | 7.35/22/−3 | 7.29/18/−7.7 | 7.32/22/−9.3 | 7.28/24/−3.2 | 7.38/23.5/−1 | 7.34/21.4/−2.7 | 7.34/23.5/−1.4 | 7.39/24/−0.1 | 7.33/22.5/−0.4 | 7.29/20.9/−4.6 |
| Cit/Cr urine (mmol/mol) | 98.5 | 70.4 | 123.2 | 218.4 | - | 42.4 | 322.4 | - | 239.2 | 578.6 |
| Calcium/IPh (mmol/L) | 2.4/1.58 | 2.4/1.87 | 2.2/1.49 | 2.5/1.65 | 2.4/1.58 | 2.3/1.78 | 2.2/1.58 | 2.2/1.74 | 2.2/1.74 | 2.2/1.74 |
| Ca/Cr urine (mol/mol) | 116.7 | 183.9 | 95.5 | 84.9 | 0.18 | 14.1 | 31.8 | 0.18 | 28.3 | 53.0 |
| Ca/Cit urine (mol/mol) | 1.22 | 2.63 | 0.75 | 0.40 | - | 0.06 | 0.10 | - | 0.12 | 0.06 |
| iPTH (pmol/L) | 3.17 | 1.19 | 2.07 | 2.08 | 5.79 | 5.71 | 3.18 | 5.79 | 5.71 | 3.82 |
| β Crosslaps (mmol/L) | - | - | - | - | - | 0.21 | 0.16 | - | 0.26 | 0.50 |
| DP/Cr urine (nmol/mmol) | 86.29 | 52.03 | 27.32 | 37.2 | - | - | - | - | - | - |
| ALP (µkat/L) | 7.78 | 4.86 | - | 5.06 | 6.08 | 3.0 | 2.37 | 4.18 | 3.72 | 4.51 |
| Osteocalcin (mmol/L) | 10.26 | 3.59 | 1.84 | 7.86 | - | 5.71 | 4.83 | - | 11.03 | 14.59 |
| Renal ultrasound | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
| BAEP | Mild bilateral sn hypoacusis | Mild bilateral sn hypoacusis | Normal | Mild bilateral sn hypoacusis | - | - | - | - | - | - |
| Acetazolamide | No | 9.9 mg/kg/day 425 mg/day/1.73 m2 | 8 mg/kg/day 375 mg/day/1.73 m2 | 7.2 mg/kg/day 366 mg/day/1.73 m2 | No | 5 mg/kg/day 300 mg/day/1.73 m2 | 12.3 mg/kg/day 816 mg/day/ 1.73 m2 | No | 7 mg/kg/day 375 mg/day/1.73 m2 | 8.6 mg/kg/day 534 mg/day/1.73 m2 |
| Height/GR | p93 | p87/−1.81 SD | p83/+1.83 SD | P67/−2.26 SD | p4 /−0.14 SD | p6/1.16 SD | P3/0 SD | p4/0.13 SD | p3/−2.43 SD | P12/+0.10 SD |
ALP: Alkaline phosphatase; BAEP: Brainstem auditory evoked potentials; BMD: Bone mineral density in lumbar region; Ca/Cit: Calcium/Citrate ratio; Ca/Cr: Calcium/Creatinine ratio; Cit/Cr: Citrate/Creatinine ratio; DP/Cr: Deoxypyridinoline/Creatinine ratio; GR: Growth rate; IPh: Inorganic phosphorus; iPTH: Intact parathyroid hormone; p: Percentile; SBE: Standard base excess; SD: Standard deviation; sn: sensorineural.