Table 1 Demographic data and laboratory findings of three cases

Weight (kg)

–

40

50

18

23.6

27

31

Height (cm)

–

137

149

112

118

128

135.9

pH

7.35–7.45

7.51*

7.46*

7.56*

7.44

7.49*

7.39

HCO₃ (mmol/L)

22–26

32*

27.8

33*

27.8

33.6*

25.8

Na (mmol/L)

135–145

136.5

141.5

138

141.5

138.5

142.5

K (mmol/L)

3.5–5.5

2.7*

4.0

2.8*

3.8

2.94*

3.92

Cl (mmol/L)

97–107

98.7*

102.4

88.0*

101.7

86*

99.4

Calcium (mg/dL)

8.5–10.3

10.3

10.3

10.1

10.7

10.4

10.8

Mg (mg/dL)

1.7–2.3

1.33*

1.94

1.19*

1.89*

1.01*

2.1*

uCa/uCr (mg/mg)

 < 0.21

0.05*

0.10

0.04*

0.16

0.06*

0.19

Renin (pg/mL)

2.5–45.1

62.08

–

51.02

–

66.01

–

Aldosterone (pg/mL)

20–230

254.03

–

263.04

–

248.02

–

SLC12A3 gene Mutation

c.1928 C > T, p.Pro643Leu homozygous mutation

c.248G > A, p.Arg83Gln homozygous mutation

c.1919A > G, p.N640S homozygous mutation