Perfil clínico e epidemiológico dos pacientes com MODY tipo 2 acompanhados no IPPMG - UFRJ: uma série de casos

Abstract

Monogenic diabetes comprises rare forms of diabetes resulting from mutations in a single gene, differing from the more prevalent types in terms of pathophysiology, diagnosis, and clinical management. Among these subtypes, Maturity-Onset Diabetes of the Young type 2 (MODY 2), caused by mutations in the glucokinase (GCK) gene, is characterized by mild, stable, and usually asymptomatic hyperglycemia, often identified during routine investigations. This study aimed to describe the clinical and epidemiological profile of patients followed at the diabetes outpatient clinic of the Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG) with genetically confirmed MODY type 2, contributing to the recognition of this condition. This was an observational, descriptive, and retrospective case series study, conducted through the analysis and review of physical and electronic medical records. Clinical, laboratory, and epidemiological data from four patients who met the inclusion criteria were analyzed. The findings demonstrated consistency between the observed clinical profile and the phenotype classically described for MODY type 2, highlighting the relevance of an integrated interpretation of these data for diagnostic suspicion. Molecular confirmation was essential for establishing the diagnosis in all cases and showed potential impact on clinical management by allowing revision of previously instituted therapeutic approaches. Given the limited availability of genetic testing in the Brazilian public health system, this study reinforces the importance of recognizing MODY type 2 in the pediatric setting based on clinical and epidemiological characteristics, aiming for more rational, individualized, and pathophysiology-based care, while avoiding unnecessary therapeutic interventions even in the absence of immediate molecular analysis.