Table 1.
Clinical characteristics of the presented family
| Characteristic | Patient No5109 | Other family members with diabetes or IGT | Healthy family members | P |
|---|---|---|---|---|
| n | 1 | 11 | 15 | – |
| % male | Female | 64% | 40% | – |
| Ketoacidosis at diagnosis |
pH 7.09 BE 14 mM |
None | NA | – |
| Age at diagnosis (years) | 2nd day after birth | 17.5 (9.2–20.7) | NA | – |
| Fasting glucose at diagnosis (mg/dl) | 765 | 126 (115–132) | 90 (79–102) | <10−5 |
| HbA1c at diagnosis (%) (mmol/mol) |
8.6 70.5 |
6.2 (5.5–6.9) 44.3 (36.6–51.9) |
NA | – |
| Treatment | Insulin |
Insulin-1 Oral agents-5 Diet-5 |
NA | – |
| Median HbAc (%) |
8.1 (7.2–8.4) 65 (55.2–68.3) |
6.1 (5.5–6.4) 43.2 (36.6–46.5) |
5.4 (5.1–5.6) 35.5 (32.2–37.7) |
0.002 |
| Fasting C-peptide (pmol/ml) | <0.5 | 1.17 (0.7–1.5) | 1.01 (0.5–1.4) | 0.53 |
P values are given for comparisons between the healthy family members and the p.Gly223Ser mutation carriers. Data are presented as medians with interquartile ranges unless noted otherwise
NA not applicable, IGT impaired glucose tolerance