MODY in Ukraine: genes, clinical phenotypes and treatment
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373692" target="_blank" >RIV/00216208:11130/17:10373692 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/17:10373692
Result on the web
<a href="https://doi.org/10.1515/jpem-2017-0075" target="_blank" >https://doi.org/10.1515/jpem-2017-0075</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1515/jpem-2017-0075" target="_blank" >10.1515/jpem-2017-0075</a>
Alternative languages
Result language
angličtina
Original language name
MODY in Ukraine: genes, clinical phenotypes and treatment
Original language description
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 HbA(1c) 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Pediatric Endocrinology & Metabolism
ISSN
0334-018X
e-ISSN
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Volume of the periodical
30
Issue of the periodical within the volume
10
Country of publishing house
DE - GERMANY
Number of pages
9
Pages from-to
1095-1103
UT code for WoS article
000412132400011
EID of the result in the Scopus database
2-s2.0-85030980712