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Table 1 Phenotype characteristic of studied HR patients

From: Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Pr

G

AD

BPS

H

P (mg/dl)

TRP (%)

25(OH)D (ng/mL)

1,25(OH)2D (pg/ml)

PTH (pg/mL)

AP (UI/l)

N

HP

1

F

1 y 3 m

Mild

 

2.9

 

28

87

 

1531

  

2

F

3 y

Sev

-2.71

2.3

60

  

48

558

N

Y

3

M

9 y

Sev

-3.38

2.3

56.4

 

13.2

21

766

N

N

4

M

1 y 4 m

Sev

-2.34

2.8

78.4

29.7

73

28

378

N

N

5

F

1 y 4 m

  

2.7

25.3

12

   

Y

 

6

F

1 y 10 m

Mod

-4.06

2.1

     

N

N

7

M

2 y 3 m

Mod

-3.2

2.9

76

175.2

 

79

1786

Y

N

8

M

1 y 5 m

Mod

       

N

N

9

M

2 y 6 m

Mod

-2.01

2.4

80

79

38.2

18

584

Y

Y

10

F

1 y 6 m

Mod

-2.05

2.7

91

  

52

791

N

N

11

F

4 m

Mild

0.88

4

89

41

75

75

1755

N

N

12

F

1 y 6 m

Sev

-3.35

2.1

32

27.5

16

68

1646

N

N

13

F

7 y

Sev

-2.24

2.8

58.2

 

21.9

49

1699

N

Y

14

F

3 y

          

15

F

           

16

F

4 y 6 m

Mod

-1.97

2.5

52

 

28

29

991

N

Y

17

F

4 y 7 m

Sev

-4.86

  

16

28

25

755

N

Y

18

F

1 y 7 m

Mod

-3.11

3.1

82.3

43

60

60

934

N

N

19

F

14 y

Sev

-3.84

 

66

37.5

 

42

534

N

N

20

F

1 y 7 m

Mild

-2.53

2.2

71

30.1

129

66.7

597

N

Y

21

F

2 y 8 m

Sev

-2.97

2.5

78

28

53

66

1020

N

N

22

F

4 y

Sev

-1.65

2.1

83

  

23

448

Y

N

23

M

3 y 2 m

Mod

-5.47

2.7

23

    

Y

BT

24

M

1 y 2 m

Sev

-2.26

2.0

59

 

30.1

57

1010

Y

Y

25

F

2 y 6 m

Sev

-2

2.7

46

45.2

53.4

48

528

N

Y

26

F

1 y 4 m

Mild

0.62

2.5

 

73

76

60

1249

N

N

27

M

3 y 2 m

Mod

-3.23

2.6

77.6

30

41

43

1389

N

N

28

F

2 y 6 m

Mild

-2.56

2.8

33

   

220

N

N

29

F

1 y 6 m

Mod

-3.1

2.4

66

54.2

39.8

58

856

N

N

30

F

4 y 10 m

Mod

-1.84

2.1

85

18

147

78

1513

N

BT

31

F

           

32

F

5 y

Sev

-3.31

3.1

59.2

 

32

52.3

1110

N

Y

33

M

5 m

Sev

0.64

3.7

62.3

6.6

13.8

22

1204

N

N

34

F

3 y

Mild

-4.37

2.2

     

N

N

35

F

3 y 8 m

Mod

-2.3

2.6

75

39

14

49

1109

N

N

36

F

4 y 5 m

Sev

-1.95

3.7

86.7

31

56.3

49

470

N

N

  1. Pr proband, G gender, AD age at diagnosis, BPS bone phenotype severity (Mod moderate, Sev severe), H height SDS, P phosphate serum levels, TRP tubular reabsorption of phosphate, 1,25(OH)2D 1,25 dihydroxi vitamin D, 25(OH)D 25 hydroxy vitamin D, PTH parathyroid hormone at diagnosis, AP alkaline phosphatase, N nephrocalcinosis after treatment, HP hyperparathyroidism (Y postreatment, BT before treatment, N no)