Mutations in the HNF1A gene as a cause of MODY3: a clinical case

Genetic dysfunction of the pancreatic β-cells and/ or factors participating in glucose metabolism can form the bases for monogenic types of diabetes mellitus. Diagnosis of MODY type of diabetes is difficult due to its rare identification in the real clinical practice and to the necessity of molecular genetic testing for the confirmation of specific mutations. Errors in the diagnosis of diabetes mellitus may be misleading for the choice of hypoglycemic treatment, which is the key problem in the management of these patients. In the clinical case described, the diagnosis of MODY3 related to the mutations in the HNF1A transcriptional factor was confirmed during pregnancy of the patient, i.e. more than 15 years had passed from manifestation of the disease in childhood, despite typical clinical symptoms and specific familial history. Optimization of the early diagnosis and management of this patient cohort can be facilitated by accumulation of theoretical knowledge and practical experience, as well as improvement of diagnostic capacities, including higher availability of molecular genetic analysis.

diabetes mellitus, MODY, genetic testing, mutation