Table 1.
Subject characteristics
| Subject no. | Family no. | Genotype | Gestational age (weeks)/birth weight (g) | Age at presentation | Diagnostic Data | Hyperinsulinism treatment | |||
|---|---|---|---|---|---|---|---|---|---|
| Plasma glucose (mg/dL) | Plasma insulin (μIU/mL) | Plasma C-peptide (ng/mL) | Plasma BOHB (mmol/L) | ||||||
| 1 | 1 | p.E67V | 39/2,892 (AGA) | 3 months | 49 | <2 | 0.290 | 0.49 | Diazoxide + lanreotide + investigational medication |
| 2 | 1 | p.E67V | FT/3,920 (AGA) | 24 years | 40 | Not obtained | Not obtained | Not obtained | Diazoxide |
| 3 | 2 | p.V91L | 39/3,771 (AGA) | Birth | 28 | 25.9 | NA | NA | Diazoxide |
| 4 | 3 | p.Y215C | 37/2,721 (AGA) | Birth | 47 | 2 | 0.750 | <0.3 | Diazoxide + continuous dextrose through G tube |
| 5 | 3 | p.Y215C | 38/4,400 (LGA) | Birth | 48 | NA | NA | 1.8 | Diazoxide + continuous dextrose through G tube |
| 6 | 4 | p.S64P (mosaic) | 36/3,685 (LGA) | 2 years | 42 | 8.1 | 0.9 | 0.26 | 60% pancreatectomy → cured (12 h, PG >70; 18 h, PG 41; BOHB, 2.1) |
| 7 | 5 | p.S69P (mosaic) | 38/3,970 (LGA) | Birth | 40 | 13.3 | 2.08 | 0.09 | 98% pancreatectomy → cured (10 h, PG 88; BOHB, 2) |
| 8 | 6 | p.W99C | 36/3,402 (LGA) | Birth | 45 | 9.7 | NA | NA | 98% pancreatectomy → persistent hypoglycemia – continuous dextrose through G tube + diazoxide + investigational medication |
| 9 | 7 | p. S69_E70insVPL | 38.5/4,052 (LGA) | Birth | 40 | 9.9 | 1.61 | <0.3 | 98% pancreatectomy → persistent hypoglycemia – continuous dextrose through G tube |
| 10 | 8 | p.R447L (mosaic) | 40/4,479 (LGA) | Birth | 40 | 10.2 | NA | NA | 98% pancreatectomy |
AGA, appropriate for gestational age; BOHB, β-hydroxybutyrate; FT, full-term; G tube, gastrostomy tube; LGA, large for gestational age; NA, not available; PG, plasma glucose.