Abstrakt
MODY (Maturity onset diabetes of the young) is a specific type of diabetes caused by mutation in a single gene, involved in the development and function of the β-cells, inherited in an autosomal dominant manner. Out of fourteen, up to date discovered, MODY genes the most often affected ones include GCK (gene encoding glucokinase enzyme) and HNF1A (encoding the transcription factor-hepatocyte nuclear factor 1α), which altogether account for approximately 80% of all MODY cases.
Mutations in other genes (e.g., HNF4A or HNF1B-hepatocyte nuclear factor 4α and 1β), occur rarely. Although MODY represents a rather scarce diabetes type, searching for MODY among much more prevalent forms of diabetes is important and desirable for its clear impact on clinical practice-for appropriate diabetes management with the most suitable treatment (accompanied with improved quality of life), for assessing the real risk of development and progression of specific diabetic complications in each MODY type, as well as for early diagnosis in the patient's relatives and offspring.
Nevertheless, overwhelming majority of MODY patients worldwide remains misdiagnosed. Moreover, no unitary and up-to-date diagnostic guidelines have been established so far, and also it is not obvious, which approach to correct identification of MODY patients is optimal.
The aim of this communication is to present our experiences with searching for patients with MODY in the context of current diagnostic proceedings and actual study outputs available.