TABLE 1

Clinical characteristics of subjects with PND screened for mutations in the gene encoding Kir6.2

N575N546IS3IS4AAAAUS4US4N92
EthnicityCaucasianCaucasianArabicArabicHispanicHispanicCaucasianCaucasianCaucasian
Family statusProbandProbandProbandProbandProbandMotherProbandFatherProband
MutationF35VV59MV59MV59MR201HR201HY330CY330CF333I
Birth
    Weight (g)2,9503,2602,1002,7102,6002,4002,5802,1002,410
    Percentile1025–50<33–105–10<510–2510–25<3
Gestation (weeks)423940423838363840
Findings on presentation
    Glucose (mmol/l)262020274448552255
    Age of diabetes diagnosis (weeks)121662246<110
Current status
    Age (years)51956263252
    Percentile for height50104520251010–25<550
    Percentile for weight5050251510<575–901025
    Insulin dose (units · kg−1 · day−1)0.5501.20.9020.450.840
    Sulfonylurea (mg · kg−1 · day−1)00.3000.40000.4
    Recent HbA1c (%)7.26.88.711.96.1NA8.2106.3
    C-peptide (nmol/l)NA<0.01<0.1650.390.5NANA0.36/0.07/0.0*0.17
    Paired glucose (mmol/l)NA7.35.5–8.810.77.7NANA20.6/14.3/23.4*7.6
    Peak C-peptide with glucagon (nmol/l)NANA<0.1650.660.5NANANA0.22
Neurological featuresNoYesYesYesNoNoNoYesNo
  • *

    * Investigated at age 5 weeks, 4 months, and 16 months, respectively (10). NA, not available.