Table 1 Clinical characteristics of seven probands with familial renal glucosuria.

From: A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

Clinical characteristics

Ic

IIc

IIIc

IVc

Vc

VIa

VIIc

VIIIa

Age (years)

22

26

30

32

25

52

38

48

Gender

Male

Male

Male

Female

Male

Male

Male

Female

Height (cm)

178

175

176

168

175

172

170

162

Weight (Kg)

62

66

78

60

72

75

63

62

FPG (mmol/l)a

4.38

4.52

5.42

4.19

5.29

4.89

4.01

4.79

2hPBG (mmol/l)b

5.98

6.07

6.24

4.8

6.02

6.33

6.17

5.99

HbA1c (%)

4.2

4.8

5.0

4.1

5.4

4.7

4.7

4.9

SCr (μmol/l)

100.2

86.3

93.2

71.0

83.5

82.3

83.2

69.0

eGFR (ml/min/1.73 m2)c

89.25

106.58

112.54

97.1

111.6

94.0

102.3

90.1

CHOL (mmol/l)

2.86

3.92

5.16

3.15

3.32

4.77

4.22

4.66

TG (mmol/l)

0.32

0.49

0.92

0.41

0.77

1.42

0.77

1.33

Uric Acid (μmol/l)

97.8

151.1

256.3

172.3

325

398

299.3

194.6

FUG (mmol/l)d

7.46

0.53

0.25

0.62

3.02

0.42

14.55

1.44

PUG (mmol/l)e

44.27

22.03

22.71

18.77

60.39

16.42

105.4

19.55

24 h Urine Glucose (g/24 h/1.73 m2)

10.56

1.96

1.77

1.66

12.74

1.34

50.68

1.78

Urine pH

6.5

8.0

6.0

5.5

5.5

6.0

6.0

6.0

Urine gravity

1.020

1.015

1.022

1.021

1.025

1.018

1.028

1.025

Proteinuria

Aminoaciduria

  1. aFPG, fasting plasma glucose;
  2. b2hPBG, 2-hours postprandial blood glucose;
  3. ceGFR, calculated by CKD-EPI formula;
  4. dFUG, Fasting urine glucose;
  5. ePUG, postprandial urine glucose