Table 2 Summary of biochemical analyses in non-lethal Raine syndrome individuals
Patient (Family.) | Family 2 | Family 2 | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Pedigree number | IV-4 | IV-5 | IV-6 | VI-1 | VI-2 | ||||||
Gender | Male | Male | Female | Male | Male | ||||||
Age (years) | 16 | 24 | 15 | 13 | 18 | 7 | 9 | 11 | 6 | 8 | 10 |
Serum calcium (8.8 – 11 mg/dL) | 9.1 (N) | 9.3 (N) | 9.6 (N) | 10,2 (N) | 9.0 (N) | 8.9 (N) | 9.2 (N) | 9.2 (N) | 8.7 (N) | 9.6 (N) | 9.0 (N) |
Serum phosphate (age dependent) | 4.9 (N) | 2.3 (↓) | 4.6 (N) | 4.7 (N) | 2.6 (↓) | 4.7 (N) | 3.8 (N) | 3.3 (↓) | 4.4 (N) | 3.4 (↓) | 3.3 (↓) |
Serum alkaline phosphatase (age dependent) | 1462 (↑) | 90 (N) | 432 (↑) | 380 (↑) | 89 (N) | 406 (↑) | 457 (↑) | -- | 365 (↑) | 385 (↑) | -- |
PTH (12 – 65 pg/mL) | NA | NA | NA | NA | NA | 95.7 (↑) | 55 (N) | 71.4 (↑) | 103 (↑) | 35.8 (N) | 52 (N) |
Urinary calcium (<4Â mg/kg/day) | -- | -- | 79.8 | 112,2 | -- | 0.5 (N) | 2.1 (N) | 0.71 (N) | 0.8 (N) | 1.3 (N) | 0.65 (N) |
Urinary phosphate (<15 mg/kg/day) | -- | -- | 122.3 | 143,6-- | -- | 11.31 (N) | 23.2 (↑) | 15.7 (↑) | 10.5 (N) | 30.5 (↑) | 11.0 (N) |
TPR (>85%) | -- | -- | -- | -- | -- | 89 (N) | 88 (N) | 79 (↓) | 90.5 (N) | 86 (N) | 84 (↓) |