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Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry
H U Irgens1, J Molnes, B B Johansson
1KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Insights
Monogenic diabetes (MD) is often misdiagnosed as type 1 diabetes in children. This study found MD in 1.1% of children in the Norwegian Childhood Diabetes Registry, highlighting the need for accurate diagnosis.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Monogenic diabetes (MD) can be misdiagnosed as type 1 diabetes in pediatric patients.
- The prevalence of MD in children with apparent type 1 diabetes is not well-established.
- Accurate diagnosis is crucial for appropriate treatment and management of childhood diabetes.
Purpose of the Study:
- To estimate the prevalence of common forms of monogenic diabetes (MD) in children.
- To investigate the diagnostic accuracy of current methods for identifying MD in pediatric diabetes cases.
- To establish the frequency of MD within a nationwide childhood diabetes registry.
Main Methods:
- A nationwide population-based study of 2,756 children (aged 0-14 years) with newly diagnosed diabetes was conducted.
- Genetic screening for mutations in key genes (KCNJ11, ABCC8, INS, HNF1A, HNF4A, MT-TL1, GCK) was performed based on clinical criteria.
- Data from the Norwegian Childhood Diabetes Registry and the Norwegian MODY Registry were utilized.
Main Results:
- Mutations were identified in 1.1% of children within the Norwegian Childhood Diabetes Registry.
- Specifically, mutations in HNF1A (15 children), GCK (9 children), KCNJ11 (4 children), and INS (1 child) were found.
- An additional 24 children with glucokinase-MODY were identified through the Norwegian MODY Registry, indicating a minimum prevalence of 3.1/100,000 for MD in Norwegian children.
Conclusions:
- This study provides the first prevalence data for common forms of MD in a nationwide childhood diabetes registry.
- Monogenic diabetes accounts for a significant proportion of childhood diabetes cases previously misdiagnosed.
- Improved genetic screening and diagnostic approaches are essential for identifying MD in children.
Aims/Hypothesis:
Monogenic diabetes (MD) might be misdiagnosed as type 1 diabetes. The prevalence of MD among children with apparent type 1 diabetes has not been established. Our aim was to estimate the prevalence of common forms of MD in childhood diabetes.
Methods:
We investigated 2,756 children aged 0-14 years with newly diagnosed diabetes who had been recruited to the nationwide population-based Norwegian Childhood Diabetes Registry (NCDR), from July 2002 to March 2012. Completeness of ascertainment was 91%. Children diagnosed with diabetes who were under12 months of age were screened for mutations in KCNJ11, ABCC8 and INS. Children without GAD and protein tyrosine phosphatase-like protein antibodies were screened in two ways. Those who had a parent with diabetes were screened for mutations in HNF1A, HNF4A, INS and MT-TL1. Children with HbA1c <7.5% (<58 mmol/mol) and no insulin requirement were screened for mutations in GCK. Finally, we searched the Norwegian MODY Registry for children with genetically verified MD.
Results:
We identified 15 children harbouring a mutation in HNF1A, nine with one in GCK, four with one in KCNJ11, one child with a mutation in INS and none with a mutation in MT-TL1. The minimum prevalence of MD in the NCDR was therefore 1.1%. By searching the Norwegian MODY Registry, we found 24 children with glucokinase-MODY, 15 of whom were not present in the NCDR. We estimated the minimum prevalence of MD among Norwegian children to be 3.1/100,000.
Conclusions/Interpretation:
This is the first prevalence study of the common forms of MD in a nationwide, population-based registry of childhood diabetes. We found that 1.1% of patients in the Norwegian Childhood Diabetes Registry had MD.
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