Keywords
maturity-onset diabetes of the young (MODY diabetes)
glucokinase (GCK)
glycated hemoglobin
C-peptide
genetic testing
Abstract
MODY diabetes (maturity-onset diabetes of the young) is a group of specific forms of diabetes mellitus (DM) characterized by early onset, typically before age 25, and clinical symptoms similar to type T2DM. To date, numerous genes have been described whose mutations are the primary cause of this disease. However, not all types of MODY diabetes are accompanied by pronounced symptoms, which raises questions about the DM diagnosis itself, and in some cases, the pathology remains undetected. This paper emphasizes the problem of critical underdiagnosis of MODY diabetes, which is due to high clinical variability and insufficient implementation of molecular genetic methods into practice.
We have detailed a clinical case of a patient with GCK-associated MODY (subtype 2), who had previously been repeatedly misdiagnosed with DM. Our case highlights that timely recognition of a specific MODY subtype using specific genetic tests is crucial for choosing the correct treatment strategy, which often allows for the discontinuation of insulin injections in favor of oral hypoglycemic drugs or diet therapy alone.
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