Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register
Authors' conclusion
More than 10% of AAB-negative children with newly diagnosed diabetes had a genetic finding associated with monogenic diabetes. Because the genetic diagnosis can lead to major changes in treatment, we recommend referring all AAB-negative paediatric patients with diabetes for genetic testing. Low-titre ICAs in the absence of other AABs does not always indicate a diagnosis of type 1 diabetes.
Study context
- Population
- Children aged ≤15 years initially registered with type 1 diabetes in the Finnish Pediatric Diabetes Register (from 2002) without AABs or with only low-titre islet cell autoantibodies (ICAs) at diagnosis
- Participants
- 152 vs 49
- Exposure
- AAB-negative vs ICAlow
- AAB-negativen = 152
- ICAlown = 49
- Outcome
- Prevalence and clinical manifestations of monogenic diabetes
Methodological detailsregister-based, next generation sequencing gene panel (42 genes)
- Register-based
- Next generation sequencing gene panel (42 genes)
Main finding
As reported in the abstract
| Group | Value | Pathogenic or likely pathogenic variants |
|---|---|---|
| AAB-negative | 12.5% | 14 [9.2%] |
| ICAlow | 4.1% |
Value
Pathogenic or likely pathogenic variants
Observational data: associations, not effects.
Further findings
Clinical features of monogenic cases
- None had DKA at diagnosis or carried high-risk HLA genotypes for T1D
- Affected genes: GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11, RFX6, LMNA, WFS1
Successful switch from insulin to oral medication (HNF1A, HNF4A or KCNJ11 variants)
- Successful switch
- four of five patients
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
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