Abstract
MODY, the most common form of monogenic diabetes, counts among genetic defects of the beta cell. It is a clinically heterogeneous group of disorders characterised by non insulin-dependent diabetes mellitus with autosomal dominant inheritance and age at diagnosis of up to 40 years.
Genetically confirmed diagnosis of MODY allows to optimise the patient's treatment. Glucokinase diabetes (MODY2), characterised by persistent hyperglycaemia, does not require any pharmacological or diet interventions.
However, it is necessary to pay attention to prevention of type 2 diabetes, the development of which is a risk in these cases. Patients with HNF-diabetes (MODY1, MODY3) suffer from progressive hyperglycaemia.
They respond very well treatment by sulphonylurea derivates. On the other hand, most patients with heterozygous mutations in the HNF1B gene leading to renal cyst and diabetes syndrome (RCAD, MODY5) do not respond well to sulphonylurea treatment, therefore insulin therapy is the only option.