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

https://doi.org/10.14341/WJPM9304

Abstract

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


Russian Federation

MD, PhD



Natalia A. Zubkova

Endocrinology Research Centre


Russian Federation

MD, PhD



Anatoly N. Tiulpakov

Endocrinology Research Centre


Russian Federation

MD, PhD



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For citation:


Tikhonovich Yu.V., Zubkova N.A., Tiulpakov A.N. The personalized approach to neonatal diabetes therapy depending on the genetic defect. World Journal of Personalized Medicine. 2017;1(1):36-39. (In Russ.) https://doi.org/10.14341/WJPM9304

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ISSN 2587-733X (Online)