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Table 1 Patient characteristics

From: Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

Patient

Current Age (years)

Age at presentation

Resolved at (years)

Focal/Diffuse

Mutation

Maximum Medication dose

Current Medication dose

Feeding method

Neurodevelopment

#1

5.3

Neonate

2.6

Diffuse

Compound heterozygous ABCC8

DZX 5 mg/kg/d

0

Orally

Speech delay

#2

9.3

Neonate

3.5

Diffuse

Maternal KCNJ11

DZX 10 mg/kg/d

0

Gastrostomy (4 years)

Speech delay

#3

16.6

Neonate

13

Diffuse

de novo ABCC8

DZX 7 mg/kg/d

0

Orally

Normal

#4

9.4

Neonate

0.7

Diffuse

Maternal ABCC8

DZX 9.2 mg/kg/d

0

Orally

Seizures at presentation, behavioural problems

#5

4.3

Neonate

3.1

Diffuse

Maternal ABCC8

DZX 7.1 mg/kg/d

0

Orally

Normal

#6

0.7

Neonate

0.4

Diffuse

Paternal ABCC8

DZX 5 mg/kg/d

0

Orally

Normal

#7

6.7

Day 2

0.5

Diffuse

Maternal ABCC8

DZX 5 mg/kg/d

0

Orally

Epilepsy, motor delay, coordination problems

#8

2.7

Day 2

0.2

Diffuse

Maternal ABCC8

DZX 5 mg/kg/d

0

Orally

Normal

#9

7.2

Day 1

6

Diffuse

Homozygous ABCC8

OCT 18.5 mcg/kg/d; Somatuline 60 mg 4-7 weekly

0

Gastrostomy (2.5 years)

Normal

#10

2.7

Day 1

1.6

Focal

Paternal KCNJ11

OCT 15 mcg/kg/d

0

Gastrostomy (1.3 years)

Normal

#11

10.9

8 months

6.6

Focal

Paternal ABCC8

OCT 19 mcg/kg/d

0

Orally

Normal

#12

7.1

Day 1

7

Diffuse

Compound heterozygous ABCC8

OCT 14.5 mcg/kg/d

0

Gastrostomy (3.6 years)

Normal

#13

5.7

Day 1

1.9

Diffuse

Paternal KCNJ11

OCT 3.8 mcg/kg/d

0

Gastrostomy (1.7 years)

Normal

#14

12.3

Day 1

9

Diffuse

Homozygous ABCC8

OCT 19.2 mcg/kg/d

0

Gastrostomy (1.2 years)

Mild gross motor, speech delay

#15

7.6

Day 70

5.5

Diffuse

Presumed paternal KCNJ11

OCT 17 mcg/kg/d

0

Gastrostomy (2.0 years)

Normal

#16

8.9

Day 5

Not resolved

Diffuse

Paternal KCNJ11

DZX 10 mg/kg/d

DZX 6 mg/kg/d

Orally

Epilepsy, speech, motor, learning difficulties

#17

1.1

Day1

Not resolved

Diffuse

Homozygous ABCC8

DZX 10 mg/kg/d

DZX 0.5 mg/kg/d

Orally

Normal

#18

1.3

Day 2

Not resolved

Diffuse

Paternal KCNJ11

DZX 8.5 mg/kg/d

DZX 5.8 mg/kg/d

Orally

Normal

#19

5.1

Neonate

Not resolved

Diffuse

de novo ABCC8

DZX 15 mg/kg/d

DZX 10.8 mg/kg/d

Gastrostomy (continuing at present)

Normal

#20

6.8

Day 2

Not resolved

Diffuse

Maternal ABCC8

DZX 9.6 mg/kg/d

DZX 3.1 mg/kg/d

Orally

Epilepsy, motor delay, behavioural problems

#21

3.2

Day 1

Not resolved

Diffuse

Paternal KCNJ11

DZX 12.5 mg/kg/d

DZX 5 mg/kg/d

Gastrostomy (overnight only, continuing)

Speech delay

  1. Patient characteristics in this cohort of patients with medically treated K-ATP CHI (n = 21), showing age at presentation, resolution status, diffuse/focal, medication dosage (DZX - diazoxide, OCT - octreotide), feeding practices and neurodevelopmental status. The type of genetic mutation (see also Table 2) has no correlation with resolution status of CHI. The mutation in patient #16 has also been classified as a variant [8]