TABLE 1

Clinical characteristics of patients with permanent early-infancy diabetes who are carriers of an INS mutation

Family F: Proband FZFamily HFamily BFamily G: Proband GI
Proband HASister HLMotherProband BGMother
SexFMFFFFM
EthnicityEuropeanEuropeanEuropeanEuropeanEuropeanEuropeanMiddle Eastern
MutationA24DR89CR89CR89CR89CR89CC96Y
At birth
    Weight (g/percentile)2,080/<32,920/253,650/80NA2,090/<3NA3,000/10
    Gestation week3938.538NA38NA41.5
At presentation
    Age (months and years)0.8 months4 years, 3 months2 years, 4 months4 years8.5 months3 months4.8 months
    PresentationKetoacidosisKetoaciduriaPolyuria/polydipsiaNAPolyuria/polydipsiaNAPolyuria/ polydipsia
    Glucose (mmol/l)38.818.47.2NA49.5NA22.5
    Autoantibodies000NA0NA0
    Pancreas ultrasonographyNNNNANNANA
    Neuropsychological assessmentNNNNNNN
C-peptide (ng/ml)
    BasalUndetectable0.50.5UndetectableUndetectableUndetectableNA
    Under glucagon (peak level)*NA3.32.6UndetectableNANA
Current status
    Age (months and years)22 months9 years, 10 months6 years, 1 month38 years6 years, 6 months35 years4 years, 10 months
    Weight (kg)12.325.51951235417
    Type of insulin therapyPumpInjectionInjectionInjectionPumpInjectionPump
    Insulin dose (units · kg−1 · day−1)0.600.560.420.320.700.750.70
    A1C (%)7.36.56.777.57.1NA
  • * Normal response: >150% over baseline.

  • Upper limit of normal values for A1C: 5.9%. N, normal; NA, not available.