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 |