Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.
Objective and hypotheses: The primary objective of this study is to identify patients with MODY and detect the MODY subtypes prevalence among the study subjects. The confirmation of the MODY diagnosis often results in a personalized treatment for the patient and for the family members that also have diabetes, along with genetic counselling for all the subjects with MODY.
Method: This is a cross-sectional study, with a quantitative approach that includes the genetic analysis of all the possible MODY patients. The study takes place in the Alcides Carneiro University Hospital (ACUH) of the Federal University of Campina Grande -Paraíba Brazil (UFCG), in the Endocrinology Clinics of the Hospital. Patients diagnosed with diabetes mellitus type 1 (DM 1) were interviewed and, if they matched our study inclusion criteria, a blood sample was taken for the genetic analysis of MODY mutations.
Results: A total of 565 patients diagnosed with DM 1 had medical appointments at least once in the ACUH endocrinology clinics. To this date, 67 patients were interviewed and six of those filled our study inclusion criteria, with the genetic analysis of four patients confirmed the diagnosis of 2 MODY2 and 2 MODY3 subjects. The medical records analysis of DM 1 patients revealed 18 possible MODY subjects and interviews will be scheduled.
Conclusion: MODY represents around 2% of all diabetes cases in the world, and in Brazil about 280 000 have one of the MODY subtypes. The diagnosis is important to personalize treatment according to the MODY subtype and identify family members with the mutations.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology