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Table 1 Main characteristics at diabetes diagnosis in 249 patients with monogenic diabetes according to genetic subtype

From: Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

 

GCK

HNF1A

HNF4A

HNF1B

ABCC8

KCNJ11

INS

N patients

109

82

25

15

8

3

7

Sex: F/M

77/32 (71%)

57/25 (70%)

16/9 (64%)

4/11 (27%)

5/3 (63%)

2/1 (67%)

4/3 (57%)

EuroCaucasian/others (%)

90/5 (95%)

59/17 (78%)

22/1 (96%)

8/6 (57%)

5/3 (63%)

2/1 (67%)

4/3 (57%)

Age (years) (n)

24 [18–30] (109)

22 [18.3–27] (82)

26 [18–31] (25)

27 [18–33.5] (15)

31.5 [26.8–34.5] (8)

21 [20.5–36] (3)

22 [19–24] (7)

≥ 3 generations with diabetes: yes/no (%)

59/48 (55%)

45/34 (57%)

19/6 (76%)

7/8 (47%)

6/2 (75%)

1/2 (33%)

4/3 (57%)

BMI (kg/m2) (n)

21.1 [19.9–22.9] (95)

22 [20.1–23.8] (70)

25.1 [22.8–27.6] (25)

20.8 [19.1–23.7] (12)

22.2 [21.4–22.8] (5)

20.8 [20.4–25.1] (3)

23.9 [23.3–28.4] (7)

BMI: normal/increased (%)

85/10 (89%)

60/11 (85%)

11/14 (44%)

10/2 (83%)

4/1 (80%)

2/1 (67%)

4/3 (57%)

Symptoms of diabetesa: yes/no (%)

4/99 (4%)

14/63 (18%)

4/20 (17%)

11/4 (73%)

1/6 (14%)

1/2 (33%)

1/6 (14%)

HbA1c (%) (n)

6.4 [6.2–6.6] (69)

7.9 [6.6–9.6] (45)

8.0 [6.3–9.5] (17)

10.3 [7.1–12.1] (9)

8.0 [7.5–8.6] (5)

7.4 [7.3–8.2] (3)

9 [8.2–9.7] (6)

HbA1c (mmol/mol) (n)

46 [44–49] (69)

63 [49–81) (45)

64 [45–80] (17)

89 [54–109] (9)

64 [58–70] (5)

57 [56–66] (3)

75 [66–83] (6)

Insulin therapy: yes/no (%)

2/93 (2%)

16/57 (22%)

6/18 (25%)

11/4 (73%)

1/5 (17%)

0/3 (0%)

1/6 (14%)

Hypertension: yes/no (%)

6/62 (9%)

9/38 (19%)

4/12 (25%)

0/7 (0%)

2/5 (29%)

0/3 (0%)

0/5 (0%)

Dyslipidemia: yes/no (%)

7/52 (12%)

5/37 (12%)

4/12 (25%)

2/5 (29%)

3/2 (60%)

0/2 (0%)

2/3 (40%)

  1. Values are actual numbers with percentages into parentheses, or median with interquartile range into brackets and numbers of values into parentheses. Patients with class 4–5 variants, excluding 5 patients with digenism, and 10 with loss-of-function variants of the K-ATP channel
  2. BMI body mass index
  3. aSymptoms of diabetes: polyuria and/or unexplained body weight loss and/or diabetic ketoacidosis