prikaz prve stranice dokumenta Maturity onset diabetes of the young due to HNF1A variants in Croatia
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Scientific paper - Original scientific paper
Maturity onset diabetes of the young due to HNF1A variants in Croatia
Biochemia Medica, 28 (2018), 2; 285-295. https://doi.org/10.11613/BM.2018.020703
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

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Pavić, T., Juszczak, A., Pape Medvidović, E., Burrows, C., Šekerija, M., Bennett, A. J. ... Owen, K. R. (2018). Maturity onset diabetes of the young due to HNF1A variants in Croatia. Biochemia Medica, 28. (2), 285-295. doi: 10.11613/BM.2018.020703

Pavić, Tamara, et al. "Maturity onset diabetes of the young due to HNF1A variants in Croatia." Biochemia Medica, vol. 28, no. 2, 2018, pp. 285-295. https://doi.org/10.11613/BM.2018.020703

Pavić, Tamara, Agata Juszczak, Edita Pape Medvidović, Carla Burrows, Mario Šekerija, Amanda J Bennett, Jadranka Ćuća Knežević, et al. "Maturity onset diabetes of the young due to HNF1A variants in Croatia." Biochemia Medica 28, no. 2 (2018): 285-295. https://doi.org/10.11613/BM.2018.020703

Pavić, T., et al. (2018) 'Maturity onset diabetes of the young due to HNF1A variants in Croatia', Biochemia Medica, 28(2), pp. 285-295. doi: 10.11613/BM.2018.020703

Pavić T, Juszczak A, Pape Medvidović E, Burrows C, Šekerija M, Bennett AJ, and sur.. Maturity onset diabetes of the young due to HNF1A variants in Croatia. Biochemia Medica [Internet]. 2018 [cited 2024 December 04];28(2):285-295. doi: 10.11613/BM.2018.020703

T. Pavić, et al., "Maturity onset diabetes of the young due to HNF1A variants in Croatia", Biochemia Medica, vol. 28, no. 2, pp. 285-295, 2018. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:163:462102. [Accessed: 04 December 2024]

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Metadata
Title (english)Maturity onset diabetes of the young due to HNF1A variants in Croatia
AuthorTamara Pavić
AuthorAgata Juszczak
AuthorEdita Pape Medvidović
AuthorCarla Burrows
AuthorMario Šekerija
AuthorAmanda J Bennett
AuthorJadranka Ćuća Knežević
AuthorAnna L Gloyn
AuthorGordan Lauc
AuthorMark I McCarthy
AuthorOlga Gornik
AuthorKatharine R Owen
Author's institutionUniversity of Zagreb
Faculty of Pharmacy and Biochemistry
(Department of biochemistry and molecular biology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Pharmacy
Pharmacy
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleBiochemia Medica
Numberingvol. 28, no. 2, pp. 285-295
p-ISSN1330-0962
e-ISSN1846-7482
DOIhttps://doi.org/10.11613/BM.2018.020703
URN:NBNurn:nbn:hr:163:462102
Publication2018
Document URLhttps://hrcak.srce.hr/198915
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2020-04-09 15:02:29