Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan
Authors' conclusion
ND in Sudan has a different pattern of etiologies compared to Western and Asian populations yet similar to some Arab countries with EIF2AK3 mutations being the commonest cause.
Study context
- Population
- Infants with onset of diabetes in the first 6 months of life attending the only two tertiary pediatric diabetes centers in Sudan, January 2006 to December 202245 unrelated families
- Participants
- 49 infants
- Outcome
- Incidence, genotype and phenotype of neonatal diabetes
Methodological detailstwo tertiary pediatric diabetes centers, medical record review, genetic testing, Medical records reviewed for demographic and clinical information, Genetic testing in 48 patients by Exeter Genomics laboratory (UK) and 1 by University of Cambridge Metabolic Research Laboratories (UK)
- Two tertiary pediatric diabetes centers
- Medical record review
- Genetic testing
- Medical records reviewed for demographic and clinical information
- Genetic testing in 48 patients by Exeter Genomics laboratory (UK) and 1 by University of Cambridge Metabolic Research Laboratories (UK)
Main finding
As reported in the abstract
Incidence of neonatal diabetes
- Estimated incidence
- 4.8 per 100,000 live births
- Genetic diagnosis confirmed
- 37 patients (75.5%) from 33 unrelated families
- Consanguinity reported
- 34 families (75.6%)
- EIF2AK3 recessive variants (Wolcott-Rallison syndrome), commonest genetic cause of permanent neonatal diabetes (ND)
- 18.92%
- ZNF808 pathogenic variants
- 3 patients (8.11%)
- NARS2 pathogenic variants
- 3 patients (8.11%)
- KCNJ11 activating variants
- 4 (10.81%)
- ABCC8 activating variants
- 2 (5.41%)
Observational data: associations, not effects.
Original publication
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan. Pediatr Diabetes. Published 15 February 2024. doi:10.
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