Antosik Karolina, Borowiec Maciej
Department of Clinical Genetics, Medical University of Lodz, Pomorska 251, 92-213, Lodz, Poland.
Arch Immunol Ther Exp (Warsz). 2016 Dec;64(Suppl 1):157-160. doi: 10.1007/s00005-016-0432-8. Epub 2017 Jan 12.
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.
单基因糖尿病是一种由胰腺β细胞功能障碍引起的罕见遗传性糖尿病。单基因糖尿病的所有亚型在儿科人群中均有发现。它们包括青年发病的成年型糖尿病、永久性新生儿糖尿病以及罕见的综合征性糖尿病形式。早期且正确的诊断有助于实施最佳治疗，改善代谢控制，减轻相关残疾，并提高患者的生活质量。
