Table 1.
Clinical history of 10 patients who presented with Congenital Hyperinsulinism (CHI)
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
| Current Age | 8 months | 18 months | 13 months | 14 months | 5 years |
| Gender | Male | Female | Male | Female | Male |
| Ethnicity & Family history | Italian/German/Slovakian, nonconsanguineous | Caucasian parents, maternal depression, history of alcohol abuse/dependence, gastric bypass, epilepsy, tobacco use 1/2 pack per day. Paternal heart condition, hypertrophic cardiomyopathy with defibrillator | Hispanic/Latino, maternal family history of asthma, paternal diabetes age of onset 28 years | Italian/Iranian, nonconsanguineous | Hispanic, nonconsanguineous |
| Age at delivery | 37 5/7 weeks via NSVD to G1P0 28 years-old mother | 38 6/7 weeks via NSVD to G5P0040 36 years-old mother | 39 6/7 weeks via NSVD to G2P2 24-year-old mother | 39 4/7 weeks via NSVD | 39 weeks via NSVD |
| Birth weight | 6 lbs 15 oz | 7 lbs 3 oz | 7 lbs 8 oz | 6 lbs 0.7 oz | 7 lbs 8 oz |
| Perinatal complications | Tachypnea requiring CPAP, hypoglycemia | Increased work of breathing after feeding | Desaturations on DOL3 | IUGR at 32 weeks | – |
| Presentation of hypoglycemia | DOL1 | DOL1 | DOL1 | DOL1 | DOL8 |
| Plasma glucose (mg/dL) Ref: 80-120[Lowest recorded] | 51[29] | 21[21] | 44[12] | 75.6[25.2/34.2] | 47[40] |
| Insulin (uIU/ml = mU/L) | 10.9 | 8.1 | 3.9 | 16.3 | 40 |
| Beta hydroxybutyrate (mmol/L) | 0.04 | NA | 0.15 | NA | 0.04 |
| Free fatty acids (mmol/L) | 0.28 | NA | NA | NA | NA |
| Glycemic response to glucagon (mg/dL) | 70 | 110 (taken during assessment for response to diazoxide) | Response to glucagon noted but no value available | NA | 20 |
| Treatment of hypoglycemia | Diazoxide 4.5 mg/kg/day. Started at 15 mg/kg/day | Diazoxide 5 mg/kg/day | Diazoxide 4 mg/kg/day | Initially with chlorothiazide 0.2 ml twice/day, diazoxide 3 mg/kg three times/ day | Diazoxide until 3 months of age |
| Was normoglycemia achieved? | Yes | Yes | Yes | Yes | Yes |
| Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | |
| Current Age | 3 years | 9 months | 18 months | 17 months | 7 months |
| Gender | Female | Male | Female | Female | Male |
| Ethnicity & Family history | Caucasian | Asian | Caucasian, nonconsanguineous | Iranian/Italian, nonconsanguineous | Ecuadorian |
| Age at delivery | 39 weeks via NSVD | 37 weeks via C-section due to nonreassuring fetal heart tones | 39 1/7 weeks via elective C-section for breech presentation | 39 4/7 weeks | 38 weeks via C-section |
| Birth weight | 7 lbs 14 oz | 5 lbs 5 oz | 11 lbs 2 oz | 6 lbs 4 oz | 6 lbs 8 oz |
| Perinatal complications | Polyhydramnios with tobacco use and asthma in the mother | Single umbilical artery, IUGR, and nuchal cord | PPHN requiring sildenafil | None | 15-day NICU stay for respiratory distress colostomy at DOL 1, Surgeries: colostomy, PSARP, g-tube and fundoplication |
| Presentation of hypoglycemia | DOL7 | DOL7 | DOL1 | DOL1 | Likely early DOL but only discovered while coming from Ecuador for ostomy reversal during preoperatory work at 7 months old |
| Plasma glucose (mg/dL) Ref: 80–120[Lowest recorded] | 35[31] | 46[30] | 17 | 25 | 41[33] |
| Insulin (uIU/ml = mU/L) | 8.8 | 1 | 8.5 | 16.3 | 6.9 |
| Beta hydroxybutyrate (mmol/L) | 0.21 | 0.22 | 0.6 | 0.4 | 0.6 |
| Free fatty acids (mmol/L) | 1.82 | NA | 0.3 | 0.6 | 1.3 |
| Glycemic response to glucagon (mg/dL) | 42 | 82 | NA | NA | 80 |
| Treatment of hypoglycemia | Diazoxide (partially responsive), octreotide, pancreatectomy due to diffuse disease, at 3 years old managed with Somatuline, g-button feeds, overnight feeds | Diazoxide, responsive and well controlled. At 4 months of age stopped due to pulmonary hypertension. Solcarb to help maintain blood glucose. Now managed with feeds | Partial pancreatectomy and diazoxide 10 mg/kg/day | Diazoxide 3 mg/kg/ day | Diazoxide 10 mg/kg/ dose three times a day |
| Was normoglycemia achieved? | No | Yes | Yes | Yes | Yes |
Laboratory values for plasma glucose, insulin, beta-hydroxybutyrate, and free fatty acids were recorded during a critical sample collection
NSVD normal spontaneous vaginal delivery, CPAP continuous positive airway pressure, IUGR intrauterine growth retardation, DOL day of life, PPHN persistent newborn pulmonary hypertension, PSARP posterior sagittal anorectoplasty, NICU neonatal intensive care unit, CHI congenital hyperinsulinism