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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.

Glycans are the most abundant and most diverse biopolymers in nature. Because of their highly specific interactions with physiological receptors, they participate in many crucial biological processes. All these processes are potential targets for therapeutic intervention, and carbohydrate-based drugs are rapidly being taken up by the modern biotechnology and pharmaceutical industry. Recent developments in the field of glycobiology have overcome the problem of glycan analysis and synthesis; and many compounds based on carbohydrates are now in various stages of clinical trials. This article presents glycoproteins in a new light, as an important biopharmaceutical target, giving an overview of their potential use as therapeutic glycoproteins and proteoglycans, inflammation blockers, cancer therapeutics and vaccines, inhibitors of pathogenic microbes, viral inhibitors and potential aids in the treatment of lysosomal diseases, neurological diseases and transplantation rejection., Glikani su najrasprostranjeniji i najraznolikiji biopolimeri prisutni u prirodi. Zbog svojih interakcija s fiziološkim receptorima sudjeluju u mnogim ključnim biološkim procesima. Svi ti procesi potencijalna su meta terapeutskih intervencija pa lijekovi bazirani na ugljikohidratima nalaze svoje mjesto u suvremenoj biotehnologiji i farmaceutskoj industriji. Razvojem glikobiologije prevladan je problem sinteze i analize glikana pa su mnogi spojevi bazirani na ugljikohidratnim strukturama trenutno u različitim fazama kliničkih ispitivanja. Ovaj članak predstavlja glikoproteine u novom svjetlu, kao važne biofarmaceutske ciljeve, dajući pregled njihove potencijalne primjene kao terapijskih glikoproteina i proteoglikana, inhibitora upale, lijekova i vakcina u liječenju tumora, inhibitora patogenih mikroorganizama i virusa, te potencijalnih sredstava u liječenju lizosomskih i neuroloških bolesti te transplantacijskih reakcija.