Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study
Authors' conclusion
Our diagnostic and therapeutic results are mainly consistent with the international indications and the CHI Global Registry data, with relatively low rates of neurological outcomes. Good outcomes were likely associated with early diagnosis and prompt management of patients because the majority of patients were diagnosed within 2 weeks. Remarkably, it is of utmost importance to spread the knowledge and refer CHI patients to multidisciplinary expert centers.
Study context
- Population
- Patients with congenital hyperinsulinism (CHI) admitted to Ospedale Pediatrico Bambino Gesù, 1985–2022
- Participants
- 154 patients
- Outcome
- Diagnosis, treatment and neurological outcome of CHI
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
- Hypoglycaemia within first year of life
- 85.5%
- Median time to diagnosis
- 1 day (IQR 14 days)
- Treated with diazoxide
- 92%
- Diazoxide-responsive
- 66.9%
- Octreotide administered
- 28.6%
- Octreotide-responsive
- 61.4%
- Off-therapy, mostly from diazoxide
- 40%
- ABCC8 mutations
- 34%
- Syndromic
- 12.6%
- Transient CHI
- 9.2%
- Surgery in diazoxide-unresponsive patients
- 23/47
- Surgery in diazoxide-responsive patients
- 2/95
- Focal at histology among operated
- 64.0%
- Diffuse CHI (combined genetics, venous sampling, 18F-DOPA PET/CT, histology)
- 80.6%
- Focal CHI (combined data)
- 16.7%
- Atypical CHI (combined data)
- 2.8%
- Developmental delay or intellectual disability, mostly mild (of 70 patients)
- 15.7%
- Epilepsy (of 139 patients)
- 13.7%
Observational data: associations, not effects.
Safety
- Post-surgical diabetes
- 6 patients
Original publication
Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study. Horm Res Paediatr. Published 28 May 2024. doi:10.
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