Abstract
IntroductionMaturity onset diabetes of the young due to HNF1A mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. It is often misdiagnosed as type 1 or type 2 diabetes, but establishing genetic diagnosis is important, as treatment differs from the common types of diabetes. HNF1A-MODY has not been investigated in Croatia before due to limited access to genetic testing. In this study we aimed to describe the characteristics of young adults diagnosed with diabetes before the age of 45 years, who have rare HNF1A allele variants, and estimate the prevalence of HNF1A-MODY in Croatia.Materials and methodsWe recruited 477 C-peptide positive and beta cell antibody negative subjects through the Croatian Diabetes Registry. HNF1A was sequenced for all participants and systematic assessment of the variants found was performed. The prevalence of HNF1A-MODY was calculated in the study group and results extrapolated to estimate the proportion of diabetic individuals with HNF1A-MODY in Croatia and the population prevalence.ResultsOur study identified 13 individuals harbouring rare HNF1A allelic variants. After systematic assessment, 8 were assigned a diagnosis of HNF1A-MODY. Two individuals were able to discontinue insulin treatment following the diagnosis. We estimated that HNF1A-MODY in Croatia has a prevalence of 66 (95% CI 61 - 72) cases per million.ConclusionsThe estimated prevalence of HNF1A-MODY in Croatia is similar to that reported in other European countries. Finding cases lead to important treatment changes for patients. This strongly supports the introduction of diagnostic genetic testing for monogenic diabetes in Croatia.
Highlights
Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders, caused by mutations in one of 13 different genes [1]
The goal of the study was to describe the clinical characteristics of Croatian subjects with HNF1A-MODY, estimate the prevalence of HNF1A-MODY within Croatian subjects diagnosed with diabetes as young adults, increase the awareness of this specific type of diabetes and provide support for introduction of genetic testing for monogenic diabetes in Croatia
We found no significant differences between diabetic subjects with or without a rare HNF1A allelic variant regarding their current age, age at onset and duration of diabetes
Summary
Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders, caused by mutations in one of 13 different genes [1]. ©Copyright by Croatian Society of Medical Biochemistry and Laboratory Medicine. Protein HNF1A regulates the expression of numerous beta cell genes, such as insulin, pyruvate kinase and the glucose transporter molecule Glut2 [3]
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