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Table 1 Biochemical laboratory results of the patient in relation to time and treatment

From: A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report

Time (At presentation and afterwards) Serum 25OHD3 [N = 75–250 nmol/L] Serum 1,25(OH)2D3 [N = 15-75 pg/mL] Serum PTH [N =1.65–6.9 pmol/L] Serum Calcium [N = 2.25–2.75 mmol/L] Serum Phosphorus [N = 1.45–2.16 mmol/L] Serum Alkaline phosphatase [N = 175–476 IU/L] Serum Magnesium [N = 0.7–1.1 mmol/L]
At presentation 119.5 16 52.9 1.94 0.82 1682 0.7
  Treatment: She was started with high-dose 1α-hydroxyvitamin D3 (2000 IU/day) and elemental calcium (61 mg/kg/day), it was gradually increased to 150 mg/kg/day with monitoring of serum levels
1 month 99.9 - 54.9 1.90 0.86 2027 -
  Treatment: Addition of oral phosphate supplements. She developed diarrhoea, so it was stopped after 1 week
2 months 99.3 - 55.4 1.6 0.90 1276 -
  Treatment: Continued on 1α-hydroxyvitamin D3 (2000 IU/day) and high-dose of calcium supplements (up to 200 mg/kg/day)
3 months - - Initially 14.00 then back to 21.36 2.06 1.02 1358 -
  Treatment: Started to wean off 1α-hydroxyvitamin D3. The PTH went high again, so it was initial dose was resumed again (2000 IU/day).
6 months - - 21.41 2.19 1.41 503 -
9 months - - 0.97 2.44 1.94 233 -
  Treatment: 1α-hydroxyvitamin D3 was weaned off gradually down to (1200 IU/day), with calcium supplements (100 mg/kg/day)
10 months - - 0.63 2.29 2.11 222 0.7
  Treatment: Daily Doses settled on 1α-hydroxyvitamin D3 (800 IU/day) and Calcium supplements (80 mg/kg/day)
  1. 1,25(OH)2D3- 1,25 dihydroxyvitamin D3, 25OHD3- 25-hydroxyvitamin D3, and PTH- Parathyroid hormone.