The personalized approach to neonatal diabetes therapy depending on the genetic defect

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Neonatal diabetes mellitus (NDM) is defined as a heterogeneous group of genetic disorders with onset before 6 months of age. Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of NDM. Accurate molecular diagnosis of NDM has significant clinical importance as it may influence diabetes treatment, explain pleiotropic features and define the prognosis in the examined subject as well as in other family members .

In this report we present the results of a genetic examination of 70 patients with NDM, generalized the experience of using sulfonylurea in patients with KCNJ11 and ABCC8 genes mutations for the period from 2009 to 2016. A correlation is shown between the type of mutation, the course of the disease, and the sensitivity of patients to glibenclamide.

About the authors

Yulia V. Tikhonovich

Endocrinology Research Centre

Author for correspondence.
ORCID iD: 0000-0001-7747-6873
SPIN-code: 6492-6790

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Natalia A. Zubkova

Endocrinology Research Centre

ORCID iD: 0000-0002-1346-7545
SPIN-code: 5064-9992

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Anatoly N. Tiulpakov

Endocrinology Research Centre

ORCID iD: 0000-0001-8500-4841
SPIN-code: 8396-1798

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036



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Copyright (c) 2017 Tikhonovich Y.V., Zubkova N.A., Tiulpakov A.N.

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