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

Table 3 Results from the lipid tolerance test in the siblings^a

	Normal value†	Patient 1 (index)	Patient 2
Glucose (mmol/l)
0 h	5.33	12.3	13.7
2 h	5.0	20.6	20.0
4 h	4.9	15.8	14.2
Insulin (pmol/l)
0 h	48.6	201.4	48.6
2 h	340.3	305.6	208.4
4 h	132.0	125.0	104.2
Total cholesterol (mmol/l)
0 h	4.5	5.5	6.8
2 h	4.5	5.6	6.4
4 h	4.5	6.0	6.7
HDL cholesterol (mmol/l)
0 h	1.3	1.5	0.7
2 h	1.3	1.3	0.8
4 h	1.3	1.3	0.8
Triglycerides (mmol/l)
0 h	<1.0	2.1	8.5
2 h	<1.6	4.8	11.6
4 h	<1.4	4.3	10.1
U-albumin (mg/l)
0 h	35-50	30	67
2 h	na	6	46
4 h	na	40	19
Albumin/creatinine (g/mol_crea)
0 h	<3.4	5.5	6.2
2 h	na	2.8	4.3
4 h	na	3.4	2.5

HDL, high-density lipoprotein
^aClinical biochemical parameters of the siblings in a lipid tolerance test (10-h fasting period followed by breakfast of 1080 kcal [47 % fat, 40 % carbohydrates and 13 % proteins]) under current medication (patient 1: insulin; angiotensin-converting-enzyme inhibitors; patient 2 glinide; no lipid lowering therapy). †Mean values reported in healthy populations, na: not available

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