TABLE 2

Clinical features of the PND patients with no Kir6.2 mutation

DPN-5DPN-6DPN-8
Sex (M/F)FMF
At birth
    Weight (g/percentile)3,6002,900/103,150
    Gestation weekTerm40Term
At presentation
    Age (days)906089
    Weight (g)5,700NA5,400
    PresentationKetoacidosisKetoacidosisKetoacidosis
    Glucose at presentation (mmol/l)17.3NA>26
    AutoantibodiesNANANA
    Pancreas ultrasonographyNormalNANA
Current status
    Age (year and month)3 years2 years, 5 months11 years, 6 months
    Height (cm/SD)11/−1.8896/+2145.1/+1.44
    Weight (kg/SD)87/−1.7314.5/+139.1/+1.6
    Insulin dose (units−1 · kg−1 · day−1)0.730.270.90
Neurological featuresSeizure at 2 monthsNoNo
Dysmorphic featuresNoNoNo
Other featuresDeceased in acute renal failure and lactic acidosisNoNo
DPN-11DPN-12DPN-16DPN-17DPN-18Mean (range)
FMMMM
1,890/<53,065/103,080/122,240/<53,370/522,912 (1,890–3,600)
37.54140413939.7 (37.5–41)
1112533126074.5 (1–260)*
1,7005,3203,3602,2407,5804,267 (1,700–7,580)
Polyuria polydipsiaHyperglycemiaKetoacidosisHyperglycemiaKetoacidosis
28.828.666.610.733.530.2 (10.7–66.6)
NegativeNANegativeNANegative
NormalNormalNANormalNormal
2 years, 9 months9 months15 years, 1 month2 years, 11 months2 years
87/−174.5/+1.61172.5/+ 0.7583.5/−385.5/0
12.3/−19.45/+0.6159.9/012.3/−111.17/−0.8
0.780.1810.650.400.62 (0.18–1)
NoNoNoNoNo
NoNoNoNoNo
NoRenal hypertrophyNoExocrine pancreatic insufficiencyNo
  • *

    * Median, rather than mean. NA, not applicable.