Abstract
The patient suffer from diabetes since her 13 years. The performed tests indicated that she has type 1 diabetes, however the pancreatic autoantibodies were negative.
She was treated by insulin. The patients family history of diabetes is positive: her mother has diabetes since her 27 years, mother's brother since 33 years, her grandmother and her siblings also suffer from diabetes.
These data together with no evidence of ketoacidosis strongly indicate the monogenic diabetes. By molecular genetic testing the mutation R125Q in hepatocyte nuclear factor 4-alpha was detected.
This mutation causes monogenic diabetes, subtype HNF4A (formely MODY1). Based on genetic diagnosis, the patient was transfered from insulin to treatment by sulphonylurea derivate glibencamid.
This treatment brought perfect compensation of the patient's diabetes (HbA1c 4.5%). The knowledge of genetic diagnosis allow the best choice of treatment for the patients.