Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

Dedov I.I.; Tikhonovich Iu.V.; E Petriaĭkina E.; Rybkina I.G.; Volkov I.É.; Stotikova O.V.; Chernykh L.G.; Tiul'pakov A.N.

doi:https://doi.org/

Dedov I.I.

Endocrinology Research Centre

Tikhonovich Iu.V.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossii

E Petriaĭkina E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Rybkina I.G.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Volkov I.É.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Stotikova O.V.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Chernykh L.G.

Oblastnaia detskaia klinicheskaia bol'nitsa, Ekaterinburg

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

Authors:

Dedov I.I., Tikhonovich Iu.V., E Petriaĭkina E., Rybkina I.G., Volkov I.É., Stotikova O.V., Chernykh L.G., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2011;57(2): 3‑8

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Dedov II, Tikhonovich IuV, E Petriaĭkina E, et al. . Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia. Problems of Endocrinology. 2011;57(2):3‑8. (In Russ.)

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Abstract:

Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.

Keywords:

neonatal diabetes mellitus

ATP-dependent potassium channels

KCNJ11 and ABCC8 genes

glibenclamid

Authors:

Dedov I.I.

Endocrinology Research Centre

Tikhonovich Iu.V.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossii

E Petriaĭkina E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Rybkina I.G.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Volkov I.É.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Stotikova O.V.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Chernykh L.G.

Oblastnaia detskaia klinicheskaia bol'nitsa, Ekaterinburg

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

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