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

Melikian M.A.

NII detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Kareva M.A.

Institut detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Petriaĭkina E.E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Volkov I.É.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Aver’ianova Yu.V.

Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University under the Ministry of Health of the Russia, Moscow, Russia, 119571

Kolomina I.G.

GBUZ "Tushinskaia DGB", Moskva

Gurevich L.E.

GU Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Brusgaard K.

H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark

Christesen H.T.

H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark

Dedov I.I.

Endocrinology Research Centre

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

Authors:

Melikian M.A., Kareva M.A., Petriaĭkina E.E., Volkov I.É., Aver’ianova Yu.V., Kolomina I.G., Gurevich L.E., Peterkova V.A., Brusgaard K., Christesen H.T., Dedov I.I.

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Journal: Problems of Endocrinology. 2012;58(2): 3‑9

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To cite this article:

Melikian MA, Kareva MA, Petriaĭkina EE, et al. . Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population. Problems of Endocrinology. 2012;58(2):3‑9. (In Russ.)

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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.

Keywords:

congenital hyperinsulinism

hypoglycemia

Authors:

Melikian M.A.

NII detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Kareva M.A.

Institut detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Petriaĭkina E.E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Volkov I.É.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Aver’ianova Yu.V.

Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University under the Ministry of Health of the Russia, Moscow, Russia, 119571

Kolomina I.G.

GBUZ "Tushinskaia DGB", Moskva

Gurevich L.E.

GU Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Brusgaard K.

H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark

Christesen H.T.

H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark

Dedov I.I.

Endocrinology Research Centre

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