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Table 1 Clinical biochemical variables in the siblings

From: Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3

Variable

Normal range

Patient 1 (index)

Patient 2

Sex

Female

Male

Age at examination, years

43

39

Weight (kg)

69

93

Height (cm)

159

177

Waist circumference (cm)

-

94

108

Body mass index (kg/m2)

<25

27

30

Systolic/diastolic blood pressure (mmHg)

120/80

120/80

125/60

Fasting glucose (mmol/l)

4.1–6.1

12.7

12.8

Hemoglobin A1c (%)

4.8–5.9

7.4

8.9

Triglycerides (mmol/l)

<1.7

2.2

6.9

Total cholesterol (mmol/l)

<5.2

7.0

7.3

High-density lipoprotein cholesterol (mmol/l)

>1.0

1.1

0.7

Low-density lipoprotein cholesterol (mmol/l)

<4.2

4.8

3.4

Urea–albumin (mg/l)

<20

22

73

Creatinine (mg/l)

5.3-8.9

3.5

6.2

Albumin/creatinine (g/molcrea)

<2.3

4.9

8.2

Glutamic acid decarboxylase-antibodies (mlU/ml)

<70

24.7

<5

Islet cell antibodies (JDF U)

<5

1.3

1.3

Islet antigen 2 antibodies (mlU/ml)

<70

<25

<1.3

C-peptide (nmol/l)

0.3–1.7

0.4

0.7

Insulin (pmol/l)

18.1–173.3

247.2*

76.4

Lipase (mmol*s/l)

<100

46.7

145

  1. Data are shown as mean ± S.D. standard deviation. *: p-values < 0.05 (unpaired t-test with the assumption of normal distributed parameters) were accepted as significant