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https://doi.org/10.11613/BM.2018.020703

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

Tamara Pavić ; Department of Biochemistry and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
Agata Juszczak ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
Edita Pape Medvidović ; Vuk Vrhovac University Clinic, Merkur University Hospital, Zagreb, Croatia
Carla Burrows ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
Mario Šekerija ; Croatian Institute of Public Health, Zagreb, Croatia; School of Medicine, Andrija Štampar School of Public Health, University of Zagreb, Zagreb, Croatia
Amanda J Bennett ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
Jadranka Ćuća Knežević ; Department of Clinical Chemistry and Laboratory Medicine, Merkur University Hospital, Zagreb, Croatia
Anna L Gloyn ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
Gordan Lauc ; Department of Biochemistry and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia; Genos Ltd, Glycobiology Division, Zagreb, Croatia
Mark I McCarthy ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
Olga Gornik ; Department of Biochemistry and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
Katharine R Owen ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK

Sažetak

Introduction:
Maturity 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 methods:
We 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.
Results:
Our 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.
Conclusions:
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.

Ključne riječi

HNF1A; maturity onset diabetes of the young (MODY); monogenic diabetes; prevalence study

Hrčak ID:

198915

URI

https://hrcak.srce.hr/198915

Datum izdavanja:

15.6.2018.

Posjeta: 1.079 *