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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.