Table 1 Summary of clinical and laboratory data

Case

Index

Familial

Index

Familial

Index

Index

Index

Index

Familial

Index

Sex

Female

Male

Female

Female

Female

Female

Male

Male

Female

Male

Genotype

c.827G > Ap.(Arg276Gln)

c.827G > Ap.(Arg276Gln)

c.1-?_1674 + ? del

c.1-?_1674 + ? del

c.1147C > T p.(Gln383*)

c.988C > Tp.(Leu330Phe)

c.494G > Ap.(Arg165His)

c.526C > Tp.(Gln176*)

c.526C > Tp.(Gln176*)

c.493C > Tp.(Arg165Cys)

BMI (kg/m²)^a

26.4

25.3

22.0

24.5

26.7

19.5

20,4

31.0

28.4

27.1

Current age (y/o)

49

46

41

72

30

59

29

41

61

47

Age at MODY diagnosis (y/o)

42

39

35

69

29

58

28

38

60

42

Age at diabetes diagnosis (y/o)

28

28

21

42

29

49

9

13

40

16

Diabetes evolution time (y)

21

18

20

30

1

10

20

28

21

31

Current diabetestreatment

Insulin

Insulin

Insulin

Insulin

Oral agents

Insulin

Insulin

Insulin

Insulin

Insulin

Complications (renal not included)

DR^b

None

DR

None

None

None

ICM^c

DR, DN^d

None

DR, ICM

C-peptide

0.5

0.2

0.5

0.4

2.8

3.8

0.9

0.2

0.3

0.1

HbA1c (%)

6.3

6.5

7.8

7.8

6.2

7.1

9.7

9.5

8.9

9.3

Renal malformation

URH^g

SK^h

URH

No

Unknown

No

BRHⁱ

No

No

URH

Transplantation

Kidney

Kidney

Liver

No

No

Kidney

No

No

Kidney

Pancreas

No

Kidney

Pancreas

CKD

Yes

Yes

Yes

No

Yes

No

Yes

Yes

Yes

Yes

CKD prior to diabetes (years)

13

20

10

–

16

–

1

–

–

–

CKD after diabetes (years)

–

–

–

–

–

–

–

2

19

5

eGFR^f

77

55

HD

52

76

99

17

51

30

17

Albumin urinary excretion

Y

Y

N/A

N

N

N

N/A

Y

N

Y

Hypertension

Y

Y

Y

Y

N

Y

Y

Y

Y

Y

Elevated liver enzymes

Y

Y

N

N

N

N

N

N

Y

Y

Hypomagnesemia

N

N

N

N

Y

N

N

N

N

N

Hyperuricemia

Y

Y

N

N

Y

N

N

N

Y

Y

Reproductive tract malformation

N

N/A

N

N

Y

N

N/A

N/A

N

N/A