Table 5 Biochemical features during follow-up
From: Natural history of non-lethal Raine syndrome during childhood
Case I | Case II | Case V | |||||
|---|---|---|---|---|---|---|---|
Age | 12 ys 6 mo | 13 ys 7 mo | 14 ys | 4 mo | 1 y 9 mo | 2 mo | 7 ys and 3 mo |
Pre-therapy | At the end of the therapya | At the end of follow-up | Pre-therapy | At the end of follow-up | Pre-therapy | At the end of follow-up | |
Calcium | 9.6 mg/dl (nv 8.8–10.8) | 9.8 mg/dl (nv 8.8–10.8) | 9.7 mg/dl (nv 8.8–10.8) | 10 mg/dl (nv 8.8–10.8) | 10.1 mg/dl (nv 8.8–10.8) | 1.92 mmol/L (nv 2.20–2.79) | 2.51 mmol/L (nv 2.20–2.79) |
Phosphorus | 2.6 mg/dl (nv 4–7) | 2.2 mg/dl (nv 4–7) | 2.6 mg/dl (nv 4–7) | 2.2 mg/dl (nv 4–7) | 2.1 mg/dl (nv 4–7) | 0.75 mmol/L (nv 1.36–2.26) | 0.73 mmol/L (nv 1.36–2.26) |
ALP | 555 U/L (nv 140–400) | 611 U/L (nv 140–400) | 419 U/L (nv 140–400) | 805 U/L (nv 140–400) | 487 U/L (nv 140–400) | 5605 IU/L (nv 187–1197) | 3874 IU/L (nv 187–1197) |
PTH | 79 pg/ml (nv 15–65) | 104 g/ml (nv 15–65) | 74 pg/ml (nv 15–65) | 71 pg/ml (nv 15–65) | 64 pg/ml (nv 15–65) | 72 pmol/L (nv 1.1–6.9) | 24 pmol/L (nv 1.1–6.9) |
25OHD | 39.2 ng/ml (nv > 30) | 35.2 ng/ml (nv > 30) | 39.2 ng/ml (nv > 30) | 57.9 ng/ml (nv > 30) | 51.2 ng/ml (nv > 30) | < 40 nmol/L (nv > 50 nmol/L) | 17 nmol/L (nv > 50 nmol/L) |
TRP% | NA | 66 | NA | 76 | 73 | 72 | NA |
FGF23 | NA | NA | NA | NA | NA | 157 RU/ml (nv 0–100) | NA |
CaU/CrU (< 3 ys:; nv < 0.5 > 3 ys: nv < 0.39) | 0.22 | 0.09 | 0.12 | 0.026 | 0.10 | Normal | Normal |
Therapy with oral phospate salt | – | yes | no | – | yes | – | yes |
Therapy with oral alfacalcidiol | – | no | no | – | yes | – | yes |
Supplementation with oral cholecalciferol | – | yes | yes | yes | yes | – | yes |