Table 2.
Phenotypic description of individuals suspected of having non-GCK-MODY (n = 64)
| Characteristics | Non-GCK-MODY (n = 64) | ||
| Typical (n = 22) | Atypical (n = 42) | P-value | |
| Age at clinical diagnosis (years) | 18.5 (15.25–21.75); n = 22 | 23 (18.25–31); n = 42 | 0.005 |
| Time between clinical and molecular diagnosis (years) | 10.5 (6.5–29.75); n = 22 | 16.5 (8–22.75); n = 42 | 0.87 |
| Glycated hemoglobin (mmol/mol) | 68 (58–74); n = 7 | 77 (50–97); n = 9 | 0.40 |
| Glycated hemoglobin (%) | 8.4 (7.45–8.95); n = 7 | 9.15 (6.7–11); n = 9 | 0.40 |
| Fasting glucose (mg/dL) | 189 (131.5–250); n = 7 | 272 (195–385); n = 12 | 0.31 |
| Symptoms of hyperglycemiaa | 3/10 (30%) | 17/22 (77.3%) | 0.04 |
| MODY calculator (%) | 75 (75–75); n = 22 | 4.6 (2.075–15.1); n = 38 | <0.0001 |
| Body mass index | n = 19 | n = 37 | 0.69 |
| Underweight | 0 | 1 (2.7%) | |
| Normal weight | 11 (57.9%) | 24 (64.9%) | |
| Overweight | 7 (36.8%) | 9 (24.3%) | |
| Obese | 1 (5.3%) | 3 (8.1%) | |
| Time to insulin treatment | n = 21 | n = 42 | 0.001 |
| Not currently treated with insulin | 10 (47.6%) | 10 (23.8%) | |
| Immediately at diagnosis | 2 (9.6%) | 24 (57.2%) | |
| Within 6 months of diagnosis | 0 | 0 | |
| Over 6 months after diagnosis | 9 (42.8%) | 8 (19%) | |
| Islet antibodies** | n = 12 | n = 18 | NA |
| Positive | 0/12 | 0/18 | |
| Negative | 12/12 (100%) | 18/18 (94.4%) | |
| Metabolic comorbiditiesb (at diagnosis of DM or during clinical follow-up) | n = 21 | n = 42 | 1 |
| Yes | 14 (66.7%) | 27 (64.3%) | |
| No | 7 (33.3%) | 15 (35.7%) | |
| Time of DM at the end of follow-up (years) | 13.5 (6.7–31.2); n = 20 | 17 (8–24.7); n = 38 | 0.97 |
| C-Peptide at the end of clinical follow-up (ng/dL) | 2 (1.1–2.5); n = 19 | 1.4 (0.9–2.2); n = 34 | 0.79 |
| Highest C-Peptide during clinical follow-up (ng/dL) | 2.4 (1.9–3.1); n = 17 | 2.1 (1.4–2.); n = 29 | 0.22 |
| Lowest C-Peptide during clinical follow-up (ng/dL) | 1.6 (1.2–2.3); n = 17 | 1 (0.4–1.3); n = 29 | 0.05 |
| Glomerular filtration rate at the end of clinical follow-up (CKD-EPI) | 116 (97–121); n = 20 | 97 (85–114); n = 35 | 0.04 |
| Diagnosis of DM in the family | 18/20 (90%) | 36/39 (92.3%) | 1 |
| Metabolic comorbiditiesc in the family | n = 17 | n = 33 | 0.03 |
| Yes | 7 (41.2%) | 25 (75.5%) | |
| No | 10 (58.8%) | 8 (24.5%) | |
| Age at onset of DM in the family | n = 17 | n = 36 | 0.05 |
| Before 18 years old | 0 | 3 (8%) | |
| Between 18 and 30 years old | 9 (53%) | 8 (22%) | |
| After 30 years old | 8 (47%) | 25 (70%) | |
Data are expressed as medians (interquartile range), with n being based on the total number of individuals for whom information was available. Significant P-values are in bold.
NA not available, DM diabetes mellitus, CKD-EPI Chronic Kidney Disease Epidemiology Collaboration.
aSymptoms of hyperglycemia include one or more of the following: polyuria, polydipsia, polyphagia and weight loss.
b Islet antibodies are considered positive when antibody levels are three times above the upper limit of normal (for the laboratory test) and at least three antibodies tested (anti-insulin, anti-glutamic acid decarboxylase, anti-protein phosphatase-like IA-2) were positive.
cMetabolic comorbidities include one or more of the following: hypertension, obesity, dyslipidemia, and hepatic steatosis.