Maturity onset diabetes of the young due to HNF1A variants in Croatia

Maturity onset diabetes of the young due to 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...

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Bibliographic Details
Published in:Biochemia Medica 2018-06, Vol.28 (2), p.020703-020703
Main Authors: Pavić, Tamara, Juszczak, Agata, Pape Medvidović, Edita, Burrows, Carla, Šekerija, Mario, Bennett, Amanda J, Ćuća Knežević, Jadranka, Gloyn, Anna L, Lauc, Gordan, McCarthy, Mark I, Gornik, Olga, Owen, Katharine R
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Alleles
Autoantibodies - blood
Biomarkers - blood
C-Peptide - blood
Croatia - epidemiology
Diabetes Mellitus, Type 2 - blood
Diabetes Mellitus, Type 2 - diagnosis
Diabetes Mellitus, Type 2 - epidemiology
Diabetes Mellitus, Type 2 - genetics
Female
Gene Expression
Gene Frequency
Genetic Testing
Hepatocyte Nuclear Factor 1-alpha - genetics
Hepatocyte Nuclear Factor 1-alpha - immunology
HNF1A
Humans
Insulin-Secreting Cells - immunology
Insulin-Secreting Cells - pathology
Male
maturity onset diabetes of the young (MODY)
Middle Aged
monogenic diabetes
Mutation
Original Papers
Prevalence
prevalence study
Registries
Sequence Analysis, DNA
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Summary:Maturity onset diabetes of the young due to 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 allele variants, and estimate the prevalence of HNF1A-MODY in Croatia. We recruited 477 C-peptide positive and beta cell antibody negative subjects through the Croatian Diabetes Registry. 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. Our study identified 13 individuals harbouring rare 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 million. The 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.
ISSN:1330-0962
1846-7482
DOI:10.11613/BM.2018.020703