Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.

Abstract

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.

• Authors: H U Irgens, J Molnes, B B Johansson, M Ringdal, T Skrivarhaug, D E Undlien, O Søvik, G Joner, A Molven, P R Njølstad
• Journal: Diabetologia (Diabetologia) Vol. 56 Issue 7 Pg. 1512-9 (Jul 2013) ISSN: 1432-0428 [Electronic] Germany
• PMID: 23624530 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ABCC8 protein, human
• HNF4A protein, human
• Hepatocyte Nuclear Factor 1-alpha
• Hepatocyte Nuclear Factor 4
• Kir6.2 channel
• Potassium Channels, Inwardly Rectifying
• Sulfonylurea Receptors
• Glucokinase

Topics

• Adolescent
• Child
• Child, Preschool
• Diabetes Mellitus, Type 1 (genetics)
• Female
• Glucokinase (genetics)
• Hepatocyte Nuclear Factor 1-alpha (genetics)
• Hepatocyte Nuclear Factor 4 (genetics)
• Humans
• Infant
• Infant, Newborn
• Male
• Mutation
• Potassium Channels, Inwardly Rectifying (genetics)
• Registries
• Sulfonylurea Receptors (genetics)