Insulin Mutation Screening in 1,044 Patients With Diabetes

TABLE 1

Clinical characteristics of the study groups

PND Infancy Early childhood MODY Type 2 diabetes Hyperinsulinism
Age at diabetes diagnosis (weeks and years) 0–26 weeks 27–52 weeks 53–104 weeks <25 years <45 years
n 141 86 58 296 463 49
Sex (% male) 50 58 41 36 48 67
Current age (years) 7 (0–69) 10 (1–51) 13 (2–72) 36 (5–77) 38 (3–87) 3 (0.4–21)
Age at diagnosis (weeks and years) 8 weeks (0–26) 39 weeks (27–52) 97 weeks ( 57–104) 16 years (3–25) 29 years (3–46) 7 weeks (0–728)
BMI (kg/m2) 17 (9–40)* 19 (13–30)* 22 (17–25)* 24 (13–30)* 23 (15–30) NA
Number of patients with an affected first-degree relative 24 (17) 9 (10) 11 (19) 296 (100) 208 (45)
Treatment: insulin/OHA + insulin/OHA/diet (% cases) 100/0/0/0 100/0/0/0 100/0/0/0 49/4/26/21 45/2/32/21
KCNJ11/ABCC8 mutations excluded 141/129 86/21 58/2 0/0 0/0 49/49
HNF1A/HNF4A/GCK mutations excluded 189/81/56 180/76/87
  • Data are n (%) or median (range). Insulin gene (INS) mutations were investigated in 1,044 patients with permanent diabetes diagnosed before 6 months of age (PND, 0–26 weeks), between 6–12 months of age (infancy, 27–52 weeks), and 1–2 years of age (early childhood, 53–104 weeks); in MODY diagnosed <25 years of age or type 2 diabetes diagnosed <45 years; and in 49 patients with hyperinsulinism.

  • * Datasets for BMI incomplete. OHA, oral hyperglycemic agent; NA, not available.

This Article

  1. Diabetes vol. 57 no. 4 1034-1042