期刊
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
卷 30, 期 10, 页码 1095-1103出版社
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpem-2017-0075
关键词
MODY; monogenic diabetes; sulfonylurea; treatment; Ukraine
资金
- Ministry of Health, Czech Republic - Conceptual Development of Research Organization, Motol University Hospital, Prague, Czech Republic [00064203/6001]
- Wellcome Trust
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.
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