PRECISION MEDICINE AND MONOGENIC DIABETES: ADVANCES, CHALLENGES, AND FUTURE PERSPECTIVES

• DOI: 10.22533/at.ed.1593492303075

• Palavras-chave: Monogenic Diabetes; MODY, Neonatal Diabetes; Precision Medicine.

• Keywords: Monogenic Diabetes; MODY, Neonatal Diabetes; Precision Medicine.

• Abstract:

  Objective: Address recent advances in precision medicine in the diagnosis and treatment of monogenic diabetes, including MODY, neonatal diabetes and rare forms. Method: The report was prepared between April and May 2023, following the PVO strategy. A search was performed in the PubMed database, using descriptors such as "Monogenic Diabetes", "MODY", "Diabetes Maturity Onset of the Young", "Neonatal Diabetes" and "Precision Medicine". Sixteen articles selected after inclusion and exclusion criteria were analyzed, of the 88 found. Results: Precision medicine is revolutionizing the treatment of single-gene diabetes, identifying specific mutations and providing more effective therapies. Lifestyle and dietary modifications are recommended for HNF1A-MODY, and the use of sulfonylureas may be considered. In the case of NDM, it is possible to transition from insulin to sulfonylureas. In insulin-resistant diabetes, the use of insulin-sensitizing agents is preferred. Early diagnosis and insulin treatment are key for LADA. Precision medicine improves the quality of life for patients with monogenic diabetes. Final considerations: Precision medicine has brought significant advances in the diagnosis and treatment of monogenic diabetes, providing more effective therapies and better quality of life for affected patients. These advances represent an important step towards personalized medicine for single-gene diabetes.