Abstract
Monogenic diabetes is a distinct form of diabetes mellitus occurring in approximately 2% of diabetic patients. It is caused by a heterozygous mutation in a single gene.
The most common types of monogenic diabetes are glucokinase diabetes and HNF diabetes. Patients with glucokinase diabetes have persistent mild hyperglycemia in the family through several generations.
In most cases there is no need for the treatment. HNF diabetes is typically hereditary and is characterized by more serious forms, a high risk of diabetic complications, and the need for pharmacological treatment.
The first-line treatment are sulphonylurea derivates which are able to bypass the genetic defect in the beta cell, and therefore keep the patient well compensated in an attempt to slow down the development of diabetic complications. Reports of patients with neonatal diabetes or monogenic diabetes caused by mutations in the insulin gene are rare.
Also in these cases the treatment can be optimized based on genetic testing results