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Table 1 Clinical characteristics and description of the genetic findings in the cohort

From: Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Code

sex

weight

Hight

Age

Cr(mg/dL) (nl 0.6–1.0)

Na mEq/L (nl 135–155)

K mEq/L (nl 3.5–5.3)

Ca mg/dL (nl 8.6–10.2)

PH (nl 7.35–7.45)

HCO3 mEq/L (nl 22–26)

UrineCa/Cr > 0.2

Defective gene

variant

Mode of detection

Final diagnosis

1

F

4.5

60

0.5

0.5

126

2.4

NA

7.61

31

0.9

CLCNKB

c.(?_-1)_(*1_?) del, p.0

WES

Bartter syndrome

2

F

3.7

65

0.5

1

124

2.2

10

7.57

48

3.5

CLCNKB

c.(?_-1)_(*1_?) del, p.0

PCR

Bartter syndrome

3

F

5.1

64

0.5

0.6

125

2.7

NA

7.58

37

0.06

CLCNKB

c.(?_-1)_(*1_?) del, p.0

PCR

Bartter syndrome

4

M

4.7

60

0.6

0.5

144

2.1

NA

7.66

35

0.1

CLCNKB

c.(?_-1)_(*1_?) del, p.0

WES

Bartter syndrome

5

M

10

96

6

0.7

144

2

8

7.56

32

0.5

?

–

WES

–

6

M

9

83

3

0.5

131

2.8

10

7.47

31

0.8

CLCNKB

c.(?_-1)_(*1_?) del, p.0

PCR

Bartter syndrome

7

F

8.35

85

2.5

0.6

123

2.5

8

7.51

32

4.25

CLCNKB

c.(?_-1)_(*1_?) del, p.0

WES

Bartter syndrome

8

F

7.4

76

2.5

0.5

125

2.1

7

7.65

39

4.75

CLCNKB

c.(?_-1)_(*1_?)del, p.0

PCR

Bartter syndrome

9

M

3.2

63

0.5

0.5

134

3.4

NA

7.47

32

NA

CLCNKB

c.(?_-1)_(*1_?)del, p.0

PCR

Bartter syndrome

10

F

4.6

60

0.9

0.5

138

3.2

10.7

7.52

27

3.6

CLCNKB

c.(?_-1)_(*1_?) del, p.0

PCR

Bartter syndrome

11

M

5.7

75

0.4

0.5

134

3

NA

7.47

27

NA

CLCNKB

c.(?_-1)_(*1_?)del, p.0

PCR

Bartter syndrome

12

F

7.25

60

3

1

135

2.4

NA

7.53

31

0.88

CLCNKB

c.(?_-1)_(*1_?) del, p.0

WES

Bartter syndrome

13

M

5.2

67

1.3

0.4

126

2.5

8.2

7.56

32

0.54

CLCNKB

c.(?_-1)_(*1_?) del, p.0

WES

Bartter syndrome

14

M

7

73

2.3

0.6

132

2.1

7

7.58

34

0.55

CFTR

c.473G > A, p. (Ser158Asn)

WES

Cystic Fibrosis

15

F

2.9

48

0.3

1

131

2.6

9.5

7.56

47

NA

SLC26A3

c.971 + 1G > T, p.?

WES

Conjenital chloride diarrea

16

M

NA

53

1.6

0.4

140

3

10.2

7.5

30.5

0.5

SLC26A4

c.1226G > A, p. (Arg409His)

WES

Pendred syndrome

17

M

5.5

NA

0.6

0.5

132

2.6

1.50

7.50

31.2

NA

HSD11B2

c.1120C > T, p.(Arg374*)

WES

Apparent mineralocorticoid excess