Abstract
Monogenic diabetes includes all forms of diabetes that arise on the basis of pathogenic carriers a mutation in a particular gene. We currently include MODY diabetes, neonatal diabetes, monogenic autoimmune forms of diabetes, diabetic syndromes (e.g.
Wolfram syndrome or MELAS), cystic fibrosis diabetes and some other rare forms of diabetes. Altogether, monogenic diabetes accounts for roughly 2-3% of all diabetes patients.
Although it seems few, these patients are found in every diabetes office. They can manifest clinically at any age from birth (neonatal diabetes) through adolescence and young adulthood (MODY) to after a later age (some syndromes).
The diagnosis of monogenic diabetes can be confirmed molecularly genetic examination. The correct etiological diagnosis of the type of diabetes is important for the patient and the doctor not only because, thanks to the knowledge of the etiology, we can better choose the treatment of diabetes, but also predict the further course and risk of transmission to offspring.
Thanks to the fact that it was possible to introduce routine genetic diagnosis of people with the suspicion of monogenic diabetes and at the same time to significantly strengthen the awareness of these types of diabetes among Czech diabetologists, today we have one of the largest genetically proven cohorts of this diabetes in Europe.
