Abstract
Monogenic diabetes is a rare genetic type of diabetes caused by pancreatic β-cells dysfunction. All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes of the young, permanent neonatal diabetes mellitus and rare syndromic forms of diabetes. An early and proper diagnosis allows to implement an optimal treatment, leads to improved metabolic control and amelioration of related disabilities as well as increases the quality of life of the patients.
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Abbreviations
- AS:
-
Alström syndrome
- DEND:
-
Developmental delay, epilepsy and neonatal diabetes syndrome
- GCK :
-
Glucokinase
- HNF1A :
-
Hepatocyte nuclear factor-1-alpha
- HNF1B :
-
Hepatocyte nuclear factor-1-beta
- HNF4A :
-
Hepatocyte nuclear factor-4-alpha
- i-DEND:
-
Intermediate developmental delay, epilepsy and neonatal diabetes syndrome
- MODY:
-
Maturity onset diabetes of the young
- NGS:
-
Next-generation sequencing
- PDX1 :
-
Pancreas/duodenum homeobox protein
- PNDM:
-
Permanent neonatal diabetes mellitus
- WFS:
-
Wolfram syndrome
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Acknowledgements
This work was supported by funds from the National Science Centre, Project No. 2011/01/N/NZ5/02758 and 2013/09/B/NZ5/00779.
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Antosik, K., Borowiec, M. Genetic Factors of Diabetes. Arch. Immunol. Ther. Exp. 64 (Suppl 1), 157–160 (2016). https://doi.org/10.1007/s00005-016-0432-8
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DOI: https://doi.org/10.1007/s00005-016-0432-8