Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
Authors' conclusion
The high remission rate observed in our cohort makes conservative medical treatment a reliable strategy for the management of patients with congenital hyperinsulinism due to ABCC8 variants. In addition, a periodic follow-up of glucose metabolism after remission is recommended, as a significant proportion of patients evolved to impaired glucose tolerance or diabetes (biphasic phenotype).
Study context
- Population
- Non-pancreatectomized patients with congenital hyperinsulinism with pathogenic or likely pathogenic ABCC8 variants, treated in the last 48 years; Continuous glucose monitoring (CGM) periodically since 2003, OGTT if hyperglycemia on CGM17 followed up
- Participants
- 18 patients
- Outcome
- Genetics and natural history
Main finding
As reported in the abstract
- Heterozygous
- 7 (38.9%)
- Compound heterozygous
- 8 (44.4%)
- Homozygous
- 2 (11.1%)
- 2 variants with incomplete familial segregation studies
- 1 patient
- Spontaneous resolution among 17 followed up
- 12 (70.6%)
- Age at resolution, median
- 6.0 ± 4 years; range, 1-14
- Progressed to diabetes with insufficient insulin secretion after resolution
- 5 of 12 (41.7%)
Observational data: associations, not effects.
Original publication
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8. J Clin Endocrinol Metab. Published 22 May 2023. doi:10.
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