ESPE2019 RFC - Late Breaking Late Breaking Abstracts (6 abstracts)
Clinical and Genetic Characterization of 148 Patients with Persistent or Transient Congenital Hyperinsulinism: A Population-Based Study in Finns
Jonna Männistö 1,2 , Maleeha Maria 3 , Joose Raivo 3 , Teemu Kuulasmaa 3 , Timo Otonkoski 4,5 , Hanna Huopio 2 & Markku Laakso 6
1Department of Pediatrics, University of Eastern Finland, Kuopio, Finland. 2Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland. 3Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland. 4Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. 5Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Centre, Faculty of Medicine, University of Helsinki, Helsinki, Finland. 6Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, and Kuopio University Hospital, Kuopio, Finland
Context: Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI; OMIM #256450).
Objective: To examine the molecular and clinical characteristics of the Finnish patients with persistent and transient CHI.
Design: A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism.
Patients: Genetic and phenotypic data were collected from 148 patients with persistent (n=92) and transient (n=56) CHI diagnosed between 1972 and 2015. A total of 88 patients with persistent and 56 with transient CHI were included in the analysis of 104 genes affecting glucose metabolism, including ten CHI-associated genes.
Main outcome measures: Targeted next-generation sequencing results and genotype-phenotype associations.
Results: Sixnovel and 20 previously reported pathogenic or likely pathogenic variants in ABCC8, KCNJ11, GLUD1, GCK, HNF4A and SLC16A1 genes were found in 70% (n=64) and 0% of the patients with persistent and transient CHI, respectively. KATP channel variants explained 58% of the mutation positive cases.
Conclusions: KATPchannel gene mutations explained a majority of the genetic etiology of CHI in our study. Genotype-phenotype associations showed wide phenotypic diversity. Therefore, next generation sequencing should be applied in the diagnostics of CHI.
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