Table 1.
Clinical characteristics and genetic mutations of 23 Iranian patients with hyperinsulinaemic hypoglycaemia
| Patient number | Gender (F = female, M = male) | Gestation-term | Birth weight (g) | Age of onset of hypoglycaemia | Epilepsy | Neurodevelopmental delay | Consanguineous parents | Treatment | Genotype | Mutation | Maternal/paternal genotype | Follow up | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Diazoxide responsive | Octreotide responsive | Pancreatectomy | ||||||||||||
| ABCC8 | ||||||||||||||
| 1 | F | Yes | 3,280 | 2 days | No | No | No | Yes | Yes | Heterozygous | c.2041-21G>A (splicing) | None/heterozygous | Died at 3 months of ago | |
| 2 | F | Yes | 3,750 | 1 day | Yes | Yes | No | Yes | Homozygous | p.R1494W (missense) | Heterozygous/heterozygous | Needed insulin | ||
| 3 | F | Yes | 4,200 | 1 day | Yes | No | Yes | Yes | Homozygous | p.W143X (nonsense) | Heterozygous/heterozygous | Needed diazoxide | ||
| 4 | F | Yes | 5,000 | 1 day | No | No | Yes | Yes | Homozygous | p.G1376R (missense) | Heterozygous/heterozygous | Needed diazoxide | ||
| 5 | M | Yes | 4,200 | 1 day | No | No | Yes | Yes | Homozygous | c.2697+5G>A (intron 22, novel splicing) | Heterozygous/heterozygous | On diazoxide | ||
| 6 | M | Yes | 4,500 | 1 day | No | No | Yes | Yes | Homozygous | c.2697+5G>A (intron 22, novel splicing) | Heterozygous/heterozygous | Resolved by 4 years of ago | ||
| KCNJ11 | ||||||||||||||
| 7 | M | Yes | 4,400 | 1 day | No | No | Yes | Yes | Compound heterozygous | p.P34OH (missense) and pF117del (novel in-frame) | Heterozygous/heterozygous | Died at 4 months of ago | ||
| HADH | ||||||||||||||
| 8 | M | Yes | 2,860 | 3 months | Yes | No | Yes | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 9 | F | Yes | 3,000 | 1 year | No | No | Yes | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | Stopped diazoxide/no relapse | ||
| 10 | M | Yes | 2,900 | 1 day | Yes | Yes | Yes | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 11 | F | Yes | 3,650 | 4 days | No | No | No | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 12 | M | Yes | 3,600 | 3 months | Yes | Yes | Yes | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 13 | M | Yes | 3,100 | 1.5 months | Yes | Yes | No | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 14 | M | Yes | 2,900 | 7.5 months | No | No | Yes | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 15 | F | Yes | 3,200 | 1 day | Yes | No | No | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 16 | M | Yes | 3,600 | 3 months | Yes | Yes | No | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 17 | M | Yes | 3,500 | 3 months | Yes | Yes | No | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| 18 | M | Yes | 3,500 | 3 months | Yes | No | No | Yes | Homozygous | delA617.c (frameshift) | Heterozygous/heterozygous | On diazoxide | ||
| No mutation | ||||||||||||||
| 19 | M | No | 1,700 | 3 years | No | No | Yes | Yes | Tapered diazoxide/no relapse | |||||
| 20 | M | No | 2,050 | 1 day | Yes | No | No | Yes | On diazoxide | |||||
| 21 | F | Yes | 2,800 | 9 months | No | No | No | Yes | On diazoxide | |||||
| 22 | F | Yes | 3,300 | 5 months | Yes | Yes | Yes | Yes | On diazoxide | |||||
| F | Yes | 3,750 | 1 day | No | No | No | Yes | On diazoxide | ||||||