Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality
Authors' conclusion
In the last decade, the increased availability of comprehensive genetic testing has resulted in increased recognition of the contribution of rare genetic subtypes within pediatric diabetes cohorts. In our study, we identified a high mortality rate among these patients.
Study context
- Population
- Patients diagnosed with diabetes before 9 months of age, Pediatric Diabetes Register, Ukraine; 66 patients from 65 unrelated families65 unrelated families
- Participants
- 66 patients
- Exposure
- Neonatal diabetes vs early-onset diabetes
- Neonatal diabetesn = 36
- Early-onset diabetesn = 30
- Outcome
- Aetiology (genetic cause) and clinical features of neonatal and early-onset diabetes
Methodological detailsPediatric Diabetes Register, genetic testing
- Pediatric Diabetes Register
- Genetic testing
Main finding
As reported in the abstract
Genetic aetiology determined
- Activating heterozygous variants in ABCC8 or KCNJ11
- 14 (37.8% of those with a genetic cause)
- Pathogenic variants in INS or GCK
- 10
- 6q24 transient neonatal diabetes
- 4
- Rare genetic subtypes (EIF2AK3, GLIS3, INSR, PDX1, LRBA, RFX6, FOXP3)
- 9 probands (24.3% of solved cases)
Observational data: associations, not effects.
Further findings
Mortality · between infancy and childhood
- Deaths in total; all diagnosed before 6 months with a genetic diagnosis
- 8
- Deaths among probands with rare genetic subtypes
- 6
Original publication
Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality. Diabet Med. Published 15 December 2022. doi:10.
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