Table 3.
Clinical characteristics of the five participants (all four carriers of P/LP variants and the carrier of the VUS E120K), four of which discontinued metformin treatment (500 mg once daily in two participants, 1000 mg twice daily in two participants) and one who was diet-treated at baseline, after three months, and difference. All data are given as median (IQR). The column difference refers to the summary of within-individual differences. BMI = body mass index, CI, confidence interval, CV = coefficient of variance, HDL = high-density lipoprotein, HOMA-IR = Homeostasis model assessment for insulin resistance, IGI = insulinogenic index, IQR = interquartile range, ISI = insulin sensitivity index, LDL = low-density lipoprotein, MAGE = mean amplitude of glycemic excursion, WHR = waist-to-hip ratio. P-values were calculated using Wilcoxon signed rank test. IQR was calculated as Q3-Q1.
| Baseline |
After three months without treatment |
Difference |
|||||
|---|---|---|---|---|---|---|---|
| Mean (95%CI) | Median (IQR) | Mean (95%CI) | Median (IQR) | Mean (95%CI) | Median (IQR) | P-value | |
| 33.3 (19.7–46.8) | 29.1 (16.5) | 33.6 (20.7–46.5) | 30.0 (14.9) | 0.4 (−0.6–1.3) | 0.06 (1.15) | 0.6 | |
| WHR | 0.85 (0.68–1.02) | 0.81 (0.08) | 0.87 (0.71–1.04) | 0.87 (0.18) | 0.02 (−0.08–0.12) | 0.01 (0.05) | 1 |
| Total cholesterol (mmol/l) | 4.4 (3.5–5.4) | 4.8 (1) | 4.3 (2.8–5.8) | 4.2 (1.6) | −0.1 (−1.5–1.2) | −0.2 (0.8) | 1 |
| LDL cholesterol (mmol/l) | 2.7 (1.9–3.5) | 2.5 (0.4) | 2.6 (1.5–3.7) | 2.7 (1.6) | −0.1 (−1.2–1.0) | −0.2 (0.5) | 0.8 |
| HDL cholesterol (mmol/l) | 1.3 (0.9–1.8) | 1.3 (0.3) | 1.1 (0.6–1.5) | 1.1 (0.5) | −0.2 (−0.6–0.1) | −0.1 (0.1) | 0.06 |
| Systolic blood pressure (mmHg) | 129 (111–146) | 132 (25) | 125 (103–147) | 124 (15) | −4 (−16–9) | −5 (5) | 0.6 |
| Diastolic blood pressure (mmHg) | 80 (73–88) | 82 (7) | 76 (64–89) | 78 (10) | −4 (−13–5) | −5 (8) | 0.3 |
| Urinary albumin/creatinine ratio | 14 (−2–29) | 6 (21) | 31 (−36–99) | 7 (11) | 18 (−56–91) | −2 (14) | 0.9 |
| Fasting glucose (mmol/l) | 7.2 (6.5–7.9) | 7.3 (0.4) | 7.0 (6.1–8.0) | 7.0 (0.6) | −0.1 (−0.6–0.3) | −0.3 (0.2) | 0.5 |
| Fasting insulin (pmol/l) | 120 (21–219) | 82 (63) | 135 (−54–325) | 78 (38) | 15 (−84–115) | −7 (48) | 1 |
| Fasting C-peptide (pmol/l) | 1109 (401–1817) | 911 (66) | 1314 (44–2584) | 934 (219) | 205 (−368–778) | 42 (209) | 0.6 |
| HOMA-IR | 5.6 (0.7–10.6) | 3.8 (3.0) | 6.5 (−3.6–16.7) | 3.5 (1.9) | 0.9 (−4.6–6.5) | −0.3 (2.0) | 1 |
| HbA1c (mmol/mol) | 49 (45–53) | 49 (3) | 50 (46–55) | 51 (6) | 1.4 (−2.6–5.4) | 1 (4) | 0.4 |
| HbA1c (%) | 6.6 (6.2–7.0) | 6.6 (0.3) | 6.8 (6.3–7.2) | 6.8 (0.6) | 0.1 (−0.2–0.5) | 0.1 (0.4) | 0.4 |
| Mean interstitial glucose (mmol/l) | 6.2 (5.7–6.7) | 6.2 (0.7) | 6.3 (5.7–7.0) | 6.4 (0.5) | 0.1 (−0.6–0.8) | −0.15 (0.5) | 1 |
| Tissue glucose CV% | 17.4 (10.4–24.4) | 15.6 (1.7) | 19.2 (11.3–27.0) | 17.8 (2.2) | 1.8 (−1.1–4.7) | 1.7 (1.9) | 0.2 |
| MAGE (mmol/l) | 2.2 (1.0–3.3) | 1.8 (0.2) | 2.3 (1.1–3.4) | 1.9 (0.3) | 0.1 (0.0–0.2) | 0.1 (0.1) | 0.06 |