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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Ogata, Tsutomu / Toppari, Jorma

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IMPACT FACTOR 2017: 1.086

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2191-0251
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Volume 30, Issue 10

Issues

MODY in Ukraine: genes, clinical phenotypes and treatment

Evgenia Globa / Nataliya Zelinska / Lenka Elblova
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Petra Dusatkova
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ondrej Cinek
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Jan Lebl
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Kevin Colclough / Sian Ellard / Stepanka Pruhova
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2017-09-01 | DOI: https://doi.org/10.1515/jpem-2017-0075

Abstract

Background:

Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members.

Methods:

Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing.

Results:

A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%). HNF1A and HNF4A MODY were the most common subtypes, accounting for 9/15 of MODY cases. Eight patients with HNF1A or HNF4A MODY and inadequate glycemic control were successfully transferred to sulfonylureas. Median HbA1c decreased from 67 mmol/mol (range 58–69) to 47 mmol/mol (range 43–50) (8.3% [7.5–8.5] to 6.4% [6.1–6.7]) 3 months after transfer (p=0.006).

Conclusions:

Genetic testing identified pathogenic HNF1A and HNF4A variants as the most common cause of MODY in Ukraine. Transfer to sulfonylureas substantially improved the glycemic control of these patients.

Keywords: MODY; monogenic diabetes; sulfonylurea; treatment; Ukraine

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About the article

Corresponding author: Dr. Evgenia Globa, Department of Pediatric Endocrinology, Ukrainian Center of Endocrine Surgery, Kyiv, Ukraine, Phone: +380685304041


Received: 2017-02-15

Accepted: 2017-07-24

Published Online: 2017-09-01

Published in Print: 2017-10-26


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: The study was supported by Ministry of Health, Czech Republic - Conceptual Development of Research Organization, Motol University Hospital, Prague, Czech Republic 00064203/6001. A special thanks to the Danish-Ukraine Club. SE is supported by a Wellcome Trust Senior Investigator award.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 10, Pages 1095–1103, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2017-0075.

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