Maturity-Onset Diabetes of the Young (Mody): Rastreamento e seguimento.

Abstract

MODY (Maturity-Onset Diabetes of the Young) is a form of monogenic diabetes, with an autosomal dominant mode of inheritance, in which patients present β-pancreatic cells dysfunction, along with defects in insulin secretion. It is estimated that 1-2% of diagnosed diabetes mellitus type 1 or 2 patients have MODY mutations instead. So far, it is known 14 different abnormal genes that can cause MODY. The diagnosis of MODY is important because it can affect the choice of treatment according to the type of MODY that the patient has and allow us to identify and diagnose relatives of the affected patients with the same type of diabetes. The main goal of our study is to identify MODY patients and also analyze wich are the most frequent MODY subtypes in our region. During our research, 91 diabetes mellitus type 1 patients, that are being treated in the endocrinology and pediatric endocrinology clinics of Alcides Carneiro University Hospital (HUAC), were interviewed. Among those individuals, 8 filled our study inclusion criteria and were invited to participate in our research by having a sample of blood collected and tested for genetic-molecular analysis of the 5 most common MODY mutations. After that, 6 patients were diagnosed with MODY2 and 2 patients were diagnosed with MODY3. Therefore, identifying the MODY cases allowed them to receive an individualized treatment, with improved glycemic control that help prevent medium and long term complications of diabetes.