Non‐surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients
Authors' conclusion
The absence of homozygous variants in KATP genes and a quite higher proportion of GLUD1 variants than previous cohorts, may explain a high response rate of non-surgical treatment in this study.
Study context
- Population
- Non-consanguineous Chinese children with monogenic congenital hyperinsulinism (CHI), national children's medical centernon-consanguineous
- Participants
- 121 children
- Exposure
- Clinical characteristics by genotype (KATP vs non-KATP variants); neonatal vs non-neonatal onset within KATP
- KATPn = 79
- GLUD1n = 35
- Rare genesn = 7
- Outcome
- Genetic spectrum and effectiveness of non-surgical treatment
Methodological detailssingle national children's medical center, CHI-targeted next-generation sequencing, subgroup analyses by onset time
- Single national children's medical center
- CHI-targeted next-generation sequencing
- Subgroup analyses by onset time
Main finding
As reported in the abstract
| Group | Value | Non-surgical treatment effective |
|---|---|---|
| KATP | 65.3% | 65.9% |
| GLUD1 | 28.9% | |
| Rare genes | 5.8% |
Value
KATP65.3%
GLUD128.9%
Rare genes5.8%
Non-surgical treatment effective
KATP65.9%
GLUD1— not stated in the abstract
Rare genes— not stated in the abstract
- Non-surgical treatment effective in non-KATP variants
- 100%
- ABCC8 p.G111R (potential founder variant)
- 10 patients
- GLUD1 p.S498L (potential founder variant)
- 12 patients
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| KATP subgroup: neonatal vs non-neonatal onset | P < 0.001 |
- KATP subgroup: neonatal vs non-neonatal onset: mild symptoms 67.9% vs 19.3%; surgical intervention 24.5% vs 3.8%; higher serum insulin and C-peptide with neonatal onset
Original publication
Non‐surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients. Pediatr Diabetes. Published 18 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →