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Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population

https://doi.org/10.14341/probl20125823-9

Abstract

Congenital hyperinsulinism (CHI) is a most frequent cause of persistent hypoglycemia in the children during the first year of life. This pathology is biochemically characterized by inadequate secretion of insulin by beta-cells of the pancreas. Congenital hyperinsulinism is a highly heterogeneous condition in terms of clinical manifestations, histological features, and molecular-genetic defects underlying the development of this disorder. A total of 9 genes are known to be involved in pathogenesis of CHI. The majority of the cases (40-60%) are attributable to the defects in KCNJ11 and ABCC8 genes encoding for the ATP-dependent potassium channels in the pancreatic cells. Approximately 15-20% cases are associated with the mutations of GCK and GLUD1 genes participating in the regulation of intracellular glucose metabolism. The results of clinical, hormonal, molecular-genetic, and histological examination of 42 children presenting with congenital hyperinsulinism are reported. These data were used to analyse the genotype-phenotype relationships.

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Review

For citations:


Melikian M.A., Kareva M.A., Petriaĭkina E.E., Volkov I.É., Aver'ianova I.V., Kolomina I.G., Gurevich L.E., Peterkova V.A., Brusgaard K., Christesen H.T., Dedov I.I. Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population. Problems of Endocrinology. 2012;58(2):3-9. https://doi.org/10.14341/probl20125823-9

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ISSN 0375-9660 (Print)
ISSN 2308-1430 (Online)