Characteristics of the patients with a genetically confirmed diagnosis of monogenic diabetes
| Causative gene | KCNJ11 | ABCC8 | Chromosome abnormality | INS | GCK | BSCL2* | Total | Significance (p value) |
| Cases (n) | 22 | 3 | 7 | 3 | 3 | 1 | 39 | – |
| Male/female | 15/7 | 1/2 | 4/3 | 2/1 | 2/1 | 1/0 | 25/14 | 0.883 |
| Gestational age (w, mean±SD) | 37.91±1.80 | 38.00±0.00 | 39.14±1.35 | 40.00±1.00 | 38.00±0.00 | 37.00 | 38.28±1.62 | 0.119 |
| Birth weight (kg, mean±SD) | 2.53±0.49 | 2.67±0.29 | 2.19±0.50 | 2.80±0.36 | 2.78±0.14 | 2.50 | 2.52±0.47 | 0.222 |
| SGA (%) | 45.45 (10/22) | 0.00 (0/3) | 71.43 (5/7) | 66.67 (2/3) | 0.00 (0/3) | 0.00 (0/1) | 43.59 (17/39) | – |
| At diagnosis | ||||||||
| Age (d, mean±SD) | 68.55±53.91 | 80.67±60.30 | 65.86±111.62 | 423.67±520.33 | 44.33±50.06 | 120.00 | 95.77±165.74 | 0.228 |
| FPG (mmol/L, mean±SD) | 30.64±6.70 | 34.80±8.32 | 24.17±7.50 | 34.47±12.08 | 8.03±0.45 | 21.00 | 28.11±9.56 | 0.019† |
| C peptide (μg/L, mean±SD) | 0.16±0.22 | 0.34±0.08 | 0.23±0.18 | 0.34±0.29 | 1.34±0.26 | 14.20 | 0.65±2.26 | 0.000‡ |
| HbA1c (%, mean±SD) | 9.79±3.17 | 6.97±2.63 | 7.90±3.00 | 12.57±2.40 | 5.27±0.50 | 7.40 | 9.03±3.28 | 0.027§ |
| DKA (%) | 45.45 (10/22) | 33.33 (1/3) | 28.57 (2/7) | 66.67 (2/3) | 0.00 (0/3) | 0.00 (0/1) | 38.46 (15/39) | – |
| Combined with other problems (n) | Anemia (2) Congenital laryngeal wheezing (2) Developmental delay (3) Cutaneous hemangioma (1) | – | Anemia (2) Facial deformity (3) Ventricular septal defect (1) Left testicular hydrocele (1) Macroglossia (1) | – | – | Hypertriglyceridemia, hyperinsulinemia, hepatomegaly and acanthosis nigricans (1) | – | – |
| Therapy | SU-R (%) | 50.00 (1/2) | 42.86 (3/7) | – | – | – | – | |
| INS (%) | 66.67 (2/3) | 57.14 (4/7) | 100.00 (3/3) | 0.00 (0/3) | 100.00 (1/1) | – | ||
| Others (%) | – | – | – | Diet 100.00 (3/3) | – | – | ||
| Evolution of diabetes | ||||||||
| Permanent (%) | 81.82 (18/22) | 0.00 (0/3) | 42.86 (3/7) | 100.00 (3/3) | 100.00 (3/3) | 100.00 (1/1) | 79.49 (31/39) | – |
| Transient (%) | 18.18 (4/22) (1 case relapse) | 100.00 (3/3) (1 case relapse) | 57.14 (4/7) (1 case relapse) | 0.00 (0/3) | 0.00 (0/3) | 0.00 (0/1) | 20.51 (8/39) | – |
| Defaulted follow-up (%) | 9.09 (2/22) | 0.00 (0/3) | 0.00 (0/7) | 0.00 (0/3) | 0.00 (0/3) | 0.00 (0/1) | 5.13 (2/39) | – |
| Years of follow-up (y, mean±SD) | 3.47±2.08 | 7.27±5.52 | 5.39±1.98 | 3.60±2.25 | 5.27±3.06 | 5.50 | 4.33±2.62 | – |
| HbA1c at the last follow-up (%, mean±SD) | 5.99±0.79 | 6.67±1.95 | 6.29±1.31 | 8.00±0.46 | 6.57±0.12 | 7.70 | 6.35±1.10 | – |
*The only one case caused by BSCL2 compound heterozygous variants was excluded from the statistical analysis.
†The p value of KCNJ11 vs ABCC8, KCNJ11 vs chromosome abnormality, KCNJ11 vs INS, KCNJ11 vs GCK, ABCC8 vs chromosome abnormality, ABCC8 vs INS, ABCC8 vs GCK, chromosome abnormality vs INS, chromosome abnormality vs GCK, INS vs GCK was 0.335, 0.039, 0.405, 0.006, 0.081, 0.97, 0.05, 0.131, 0.017, 0.05, respectively.
‡The p value of KCNJ11 vs ABCC8, KCNJ11 vs chromosome abnormality, KCNJ11 vs INS, KCNJ11 vs GCK, ABCC8 vs chromosome abnormality, ABCC8 vs INS, ABCC8 vs GCK, chromosome abnormality vs INS, chromosome abnormality vs GCK, INS vs GCK was 0.185, 0.434, 0.208, 0.000, 0.424, 0.986, 0.003, 0.481, 0.000, 0.011, respectively.
§The p value of KCNJ11 vs ABCC8, KCNJ11 vs chromosome abnormality, KCNJ11 vs INS, KCNJ11 vs GCK, ABCC8 vs chromosome abnormality, ABCC8 vs INS, ABCC8 vs GCK, chromosome abnormality vs INS, chromosome abnormality vs GCK, INS vs GCK was 0.16, 0.209, 0.163, 0.031, 0.663, 0.053, 0.7, 0.053, 0.121, 0.05, respectively.
d, day; DKA, diabetic ketoacidosis; FPG, fasting plasma glucose; INS, insulin; SGA, small for gestational age; SU-R, sulfonylurea response; w, week; y, year.