Correspondence
Findings
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 |