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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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30209 - Paediatrics

Result continuities

  • Project

  • 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 &amp; Metabolism

  • ISSN

    0334-018X

  • e-ISSN

  • 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