Table 1.
Results from the clinical examination of the five translocation carriers
| II.2 | III.2 | III.4 | III.5 (Proband) | IV.4 | |
|---|---|---|---|---|---|
| Gender | Female | Male | Male | Female | Female |
| Age (years) | 77 | 57 | 54 | 50 | 23 |
| BMI (kg/m2) | 36.1 | 34.3 | 35.5 | 42.6 | 20.8 |
| Body fat percentage (%) | 47.2 | 33.8 | 32.6 | 49.6 | 30.1 |
| Fasting p-glukose (mmol/L) | 7.6 | 6.0 | 6.0 | 6.2 | 4.8 |
| Oral glucose tolerance test, p-glucose at 120 min (mmol/L) | 11.0 | 5.9 | 3.9 | 6.7 | 5.4 |
| Fasting s-insulin (pmol/L) | 125 | 141 | 62 | 137 | 43 |
| Oral glucose tolerance test, s-insulin at 120 min (pmol/L) | 940 | 361 | 111 | 373 | 173 |
| HbA1c (mmol/L) | 42 | 37 | 38 | 38 | N/A |
| Plasma cholesterol (mmol/L) | 5.1 | 6.0 | 5.1 | 4.2 | 4.8 |
| Urinary test | Blank | Blank | Blank | Blank | Blank |
| ECG | Normal | Normal | Atrial fibrillation | Normal | Normal |
| Blood pressure (systolic/diastolic mmHg) | 126/73a | 130/90a | 134/87a | 134/95a | 121/64 |
| Antihypertensive treatment | From 35 years | From 48 years | From 45 years | From 35–38 years | |
| Medicine in 2017 | Losartan-Hydrochlorothiazide 100 mg/12.5 mg × 1; Metoprolol 25 mg × 1; Acetylsalicyl acid 75 mg × 1 | Enalapril 10 mg × 1 | Captopril 25 mg × 3; Felodipine 5 mg × 1; Warfarin 2.5 mg × 3 Bendroflumethiazide/potassium chloride 2.5 mg/573 mg × 1 | Losartan 100 mg × 1; Felodipine 10 mg × 1; Bendroflumethiazide/potassium chloride 2.5 mg/573 mg × 1 | None |
| Other diseases | Psoriasis | Cervical dysplasia |
aBlood pressure when treated with antihypertensive medicine
BMI body mass index, ECG electrocardiography, p plasma, s serum
Values exceeding the recommended thresholds are indicated in bold