Variantes patogênicas relacionadas ao diabetes tipo mody: perfil de um serviço de referência em endocrinologia pediátrica no estado da Bahia

Abstract

Objective: To describe the clinical profile and pathogenic variants of patients diagnosed with DM-MODY, followed in a reference service in pediatric endocrinology in the state of Bahia. Method: This is a retrospective observational study, evaluating 7 children diagnosed with DM-MODY confirmed by molecular testing: next-generation sequencing and whole exome sequencing. Result: Among the 7 patients with DM-MODY, 71.4% were male, with an average age of onset of symptoms at 5 years and 6 months. There was an extended time to diagnosis, with an average of 3 years and 2 months. The most common pathogenic variants in this sample were found in the GCK gene (85.7%). Discussion: DM-MODY is a rare condition that requires a high index of suspicion for early diagnosis. The difficulty in accessing molecular tests due to the high cost of the exam contributes to the prolonged time between the onset of symptoms and the confirmed diagnosis. The main pathogenic variants of DM-MODY are found in the GCK, HNF1A, and HNF4A genes, which are important not only for the etiological definition but also for determining clinical follow-up and treatment. Medication is required only for pathogenic variants of HNF1A and HNF4A, with insulin therapy being rarely needed. Conclusion: This study identified a higher prevalence of MODY-GCK, with a heterogeneous pattern of pathogenic variants. The patient with MODY-HNF1A presented typical symptoms, as described in the literature. The correct diagnosis of DM-MODY can significantly reduce treatment and monitoring costs, in addition to enabling the reclassification of genetic variants and the confirmation of diagnoses in uncertain cases. Therefore, it is essential to increase accessibility to genetic panels.