Table 1.

Clinical details

VariablePatient ID
1.11.21.31.42.12.23.14.15.16.17.18.19.19.210.110.211.112.1
SexMaleFemaleFemaleFemaleFemaleMaleMaleMaleFemaleMaleFemaleFemaleMaleMaleFemaleMaleFemaleMale
Mutation
 Nucleotidec.-167G>T/c.-167G>Tc.-167G>T/c.-167G>Tc.-167G>T/c.-167G>Tc.-167G>T/c.-167G>Tc.-167G>T/c.422G>Ac.-167G>T/c.422G>Ac.-167G>T/c.470T>Cc.-167G>T/c.422G>Ac.-167G>T/c.422G>Ac.-167G>T/c.422G>Ac.-167G>T/c.422G>Ac.-167G>T/c.255+1G>Ac.-167G>T/c.620T>Cc.-167G>T/c.620T>Cc.-167G>T/c.470T>Cc.-167G>T/c.470T>Cc.-167G>T/c.470T>Cc.-167G>T/c.24del
 Predicted proteinp.?/p.?p.?/p.?p.?/p.?p.?/p.?p.?/p.Arg141Hisp.?/p.Arg141Hisp.?/Phe157Serp.?/p.Arg141Hisp.?/p.Arg141Hisp.?/p.Arg141Hisp.?/p.Arg141Hisp.?/p.?p.?/p.Phe207Serp.?/p.Phe207Serp.?/p.Phe157Serp.?/p.Phe157Serp.?/p.Phe157Serp.?/p.Leu8fsX
 Hyperinsulinism
 Birth weight, g28803400300037503850340033252960N/A42004252450034403450N/A3720N/A3160
 Age at diagnosis,  mo61048100821040N/A1214018111424
 TreatmentNoneNoneNoneNoneDiazoxideDiazoxideDiazoxideDiazoxideN/ADiazoxideDiazoxide/cornstarchN/ADiazoxideDiazoxideN/AN/ADiazoxideDiazoxide
Renal disease
 Antenatal  abnormalitiesCysts/polyhydramniosNoNoNoNoNoNoNoN/ACystsN/AN/ACystsCystsN/AN/ANoNo
 Age at renal  diagnosis, mo064811480210360361500N/AN/A200
 eGFR  at diagnosis,  ml/min per  1.73 m27010085115959090509520120753040N/AN/A105N/A
 Kidney size,  percentile>95th>95th>95th>95th>95th>95th>95th>95th>95th>95th>95th>95thN/AN/AN/AN/A>95th>95th
 MorphologyCystsHyperechogenicity/cystsHyperechogenicity/cystsHyperechogenicity/cystsCystsCystsCystsCystsCystsCystsCystsCystsCystsCystsCystsCystsCystsCysts
 Age at last f/u, yr101520141141214611740.3N/AN/A1119
 eGFR at last f/u,  ml/min per  1.73m27090<10 (18)758040905085<10 (2)141406570N/AN/A94<10 (7)
Liver disease
 Morphology  (ultrasound)NormalNormalNormalNormalCystsCystsNormalNormalCoarse echotextureCystsCystsNormalaNormalNormalCystsN/ACystsCysts
 Liver function  testsNormalNormalNormalNormalNormalNormalNormalNormalN/ANormalNormalNormalNormalNormalNormalNormalN/ANormal
  • Shown are pertinent clinical data for the 17 patients. Note the presence of the PMM2 promoter mutation c.-167G>T in all patients. ID, identifier; N/A, not available; f/u, follow-up.

  • a Ultrasound imaging of the liver was normal, yet a biopsy revealed ductal plate malformation (see Figure 3).