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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, br. 2, 2018, str. 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, br. 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), str. 285-295. doi: 10.11613/BM.2018.020703

Pavić T, Juszczak A, Pape Medvidović E, Burrows C, Šekerija M, Bennett AJ, i sur.. Maturity onset diabetes of the young due to HNF1A variants in Croatia. Biochemia Medica [Internet]. 2018. [pristupljeno 24.12.2024.];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, br. 2, str. 285-295, 2018. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:163:462102. [Citirano: 24.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:163:462102
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Naslov (engleski)Maturity onset diabetes of the young due to HNF1A variants in Croatia
AutorTamara Pavić
AutorAgata Juszczak
AutorEdita Pape Medvidović
AutorCarla Burrows
AutorMario Šekerija
AutorAmanda J Bennett
AutorJadranka Ćuća Knežević
AutorAnna L Gloyn
AutorGordan Lauc
AutorMark I McCarthy
AutorOlga Gornik
AutorKatharine R Owen
Autorova ustanovaSveučilište u Zagrebu
Farmaceutsko-biokemijski fakultet
(Zavod za biokemiju i molekularnu biologiju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Farmacija
Farmacija
Sažetak (engleski)
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 (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaBiochemia Medica
Brojčani podacivol. 28, br. 2, str. 285-295
p-ISSN1330-0962
e-ISSN1846-7482
DOIhttps://doi.org/10.11613/BM.2018.020703
URN:NBNurn:nbn:hr:163:462102
Datum objave publikacije2018
URL dokumentahttps://hrcak.srce.hr/198915
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2020-04-09 15:02:29