TABLE 1

Clinical features of the PND patients with Kir6.2 mutations

DPN-2DPN-3DPN-4DPN-7
MutationR201CR201HV59ME322K
Sex (M/F)MMMF
At birth
    Weight (g/percentile)2,610/<52,780/<52,590/<52,110/<5
    Gestation week40413938
At presentation
    Age (days)37171273
    Weight (g)3,8202,9004,7002,110
    PresentationHyperglycemiaPolyuria/polydipsiaKetoacidosisHyperglycemia
    Glucose at presentation (mmol/l)2522.44619
    Autoantibodies0NA00
    Pancreas ultrasonographyNormalNormalNormalNormal
Current status
    Age (year and month)10 years4 years9 years, 3 months10 years, 10 months
    Height (cm/SD)147/+1.9101.5/0NA139.8/0
    Weight (kg/SD)18.5/−0.616.5/+0.329/027.7/−1
    Insulin dose (units−1 · kg−1 · day−1)0.790.700.880.62
Neurological featuresNoNoLeucodystrophy/ developmental delayNo
Dysmorphic featuresNoNoNoNo
Other featuresNoneNoneSevere oesophagiaNone
DPN-9DPN-10DPN-13ND-JND-CMean (range)
G53NR201HY330CR201HF35L
MFFMM
3,000/302,710/<52,400/<53,150/183,260/602,734 (2,110–3,260)
38.54041413939.7 (38–41)
957337684242 (3–127)*
5,0404,3002,7004,6703,360
KetoacidosisKetoacidosisKetoacidosisHyperglycemiaKetoacidosis
5522.77037.83837.3 (19–70)
0NANANA0
NormalNANANANormal
4 years, 8 months5 months2 years, 8 months3 months2 years, 4 months
100.6/063/+288/−0.861/+0.5NA
16/07.05/012.3/−0.66/+0.413.5/+0.5
0.400.680.771.200.700.75 (0.40–1.20)
NoNoHemiplegiaNoNo
NoNoNoNoNo
NoneNoneNoneNoneNone
  • *

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