Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study
Authors' conclusion
Individuals with disease-causing ABCC8 variants dominated our cohort. Patients with known genetic etiology had earlier and more severe disease onset than genetically unsolved patients.
Study context
- Population
- Probands with suspected congenital hyperinsulinism (CHI) in Norway registered over the past 2 decades77 CHI probands
- Participants
- 98 participants
- Outcome
- Genetic findings in CHI probands
Methodological detailsretrospective review of medical records, All probands screened for ABCC8 and KCNJ11 variants; other CHI genes Sanger-sequenced by phenotype (n = 75) or NGS panel of 30 CHI-related genes (n = 23)
- Retrospective review of medical records
- All probands screened for ABCC8 and KCNJ11 variants; other CHI genes Sanger-sequenced by phenotype (n = 75) or NGS panel of 30 CHI-related genes (n = 23)
Main finding
As reported in the abstract
- Genetic findings in final cohort of 77 CHI probands
- 46 (60%)
- ABCC8 variants (most common)
- n= 40
- Novel ABCC8 variants identified
- 5
- Heterozygous, apparently dominant ABCC8 variant with milder phenotype
- 8 probands
- Pathogenic GLUD1 variants
- 2 probands
- Variants in HADH, HNF4A, KCNJ11 and HK1 (HK1 noncoding)
- 1 proband each
- Both pathogenic GCK p.(Ala456Val) and ABCC8 p.(Gly505Cys)
- 1 proband
Observational data: associations, not effects.
Further findings
Diagnosis other than CHI
- Diagnosis other than CHI
- 21 (21%)
- Idiopathic ketotic hypoglycemia
- 9%
- Syndromic hyperinsulinism
- 4%
Clinical course
- Neurologic sequelae in CHI probands
- 53%
- Spontaneous resolution in nonsurgically treated probands
- 43%
Minimum birth prevalence of CHI in Norway
- Minimum birth prevalence
- 1:19,400 live births
Original publication
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study. J Clin Endocrinol Metab. Published 4 July 2024. doi:10.
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