Table 1 Initial/final significant findings in the family

Age at diagnosis (years)

11

33

41

1

Serum alkaline phosphatase (Times above the upper limit of normal reference values)

4.0/2.0

0.6/1.1

2.5/1.5

1.5/3.5

Serum calcium (mg/dl) (Normal reference values: 8.5-10.5)

10.5/9.8

9.46/9.84

10.0/8.8

10.6/10.3

Serum phosphate (mg/dl)

3.2/2.3

2.6/4.3

4.2/2.8

5.3/5.0

Urine calcium/creatinine (mg/mg) (Normal reference values: <0.20)

0.45/0.21

0.33/0.27

0.17/0.04

0.52/0.34

Urine calcium (mg/kg/day) (Normal reference values: < 4.0)

9/5

6.4/NA

4.5/NA

5.5-6.2

Urine phosphate (mg/kg/day) (Normal reference values: 12.4 ± 4.6)

28.0/16.9

12.5/NA

16.1/NA

28.0/NA

Tubular reabsorption of phosphate (%) (Normal reference values: 75-85)

63.8/74.4

79.0/90.5

77.8/NA

78.1/89.9

TmP/GFR (mg/dl) (Normal reference values: 2.5-4.2)

2.1/1.8

2.1/4.2

3.3/NA

4.1/4.9

Serum intact PTH (pg/ml) (Normal reference values:10-65)

9/22

62/27

38/41

13/13

Serum 25 hydroxivitamin D (ng/ml) (Normal reference values: 10-68)

16/18

18/20.4

41/24.2

29/29

1,25 dihydroxyvitamin D (pg/ml) (Normal reference values: 20-63)

109/96

83/80

37/38

71/64

eGFR (ml/min/1.73 m²)

104/109

83/107

84/101

144/159