Incidência de diabetes mellitus tipo MODY no Brasil: uma revisão sistemática

Abstract

MODY diabetes is a form of monogenic diabetes caused by mutations in genes related to pancreatic β-cell function. Although its incidence remains low, accurate identification has a direct impact on clinical management, especially because it allows treatments that differ from those used for type 1 and type 2 diabetes. In Brazil, the population’s genetic diversity and the scarcity of studies make it difficult to estimate its true occurrence. Therefore, this study aimed to review national and international literature published in the last ten years on the incidence of MODY in Brazil and to describe the genetic variants reported. A systematic review was conducted in the SciELO, Google Scholar and EBSCO databases, using MeSH and DeCS descriptors. Original articles and case reports published between 2015 and 2025 that described incidence, genetic variants, and clinical characteristics compatible with MODY were included. After screening 195 publications, eight studies met the eligibility criteria. The analyzed studies identified mutations in the GCK, HNF1A, PAX4, PDX1, NEUROD1, and HNF1B genes, with cases documented mainly in the Southeast and Northeast regions. The age at diagnosis varied widely, and most patients presented negative autoantibodies and preserved C-peptide levels, consistent with the typical MODY profile. Several novel variants were also reported in the country. Thus, although confirmed cases of MODY exist in Brazil, the condition remains underdiagnosed. Expanding access to genetic testing, improving professional training, and encouraging multicenter studies are essential to estimate its true incidence and to improve care for individuals with monogenic diabetes.