Skip to main content

Table 1 The table shows clinical and biochemistry data of the proband at DM diagnosis in the upper part and data at last examination of all mutation carriers (including proband) in the lower part

From: Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation

Proband’s data at the time of clinical diagnosis of DM (i.e. at age of 9.1 years)
HbA1c (mmol/mol) 58
C-peptide (ng/ml) 2.9
Total/HDL cholesterol (mg/dl) 176 / 34
Triglycerides (mg/dl) 105
Systolic/diastolic blood pressure (mmHg) 113 / 65
Fundus oculi Normal
Anti-thyroid, ICA, GAD, IA-2 antigens antibodies Negative
Oral glucose tolerance test Blood glucose (mg/dl) Blood insulin (microU/ml)
Before glucose load 100 10.4
30 min after glucose load 215 57.2
60 min after glucose load 308 82.2
90 min after glucose load 351 84.3
120 min after glucose load 320 77.7
Clinical data Proband Brother Mother Uncle
Age at examination (yrs) 10.7 8 36.5 33.1
Age at diagnosis (yrs) 9.1 7.2 26 30.2
Glycaemic status diagnosed Transient DM IGT GDM DM
Age at genetic testing (yrs) 9.6 7.2 35.9 32.5
BMI (Kg/m 2 ) 19 19.5 20.9 26.3
Blood pressure (mmHg) 107 / 68 110 / 60 160 / 90 130 / 80
HbA1c (mmol/mol) 6.1 37 40 60
Fasting blood glucose (mg/dl) 99 72 80 171
C-peptide (ng/ml) 1.9 1.3 1.1 1.4
Insulin (microU/ml) 7.6 3.5 3 4.3
Total cholesterol (mg/dl) 157 126 152 177
HDL cholesterol (mg/dl) 57 35 55 50
LDL cholesterol (mg/dl) 80 77 83.8 118
Triglycerides (mg/dl) 59 54 66 45
Creatinine (mg/dl) 0.45 0.59 0.67 0.89
Albuminuria (mg/dl) 7 8.4 3 8.2
Glycosuria (mg/dl) Absent Absent Absent Absent
Anti-hyperglycaemic therapy None None Diet, physical activity Diet, physical activity
Fundus oculi Normal Normal Normal Normal
  1. DM: diabetes mellitus. IGT: impaired glucose tolerance at OGTT. GDM: gestational diabetes mellitus.