Resumen

MUNOZ, Laura Cristina Orbe  y  ORDONEZ, Gabriele Davide Bigoni. Characteristics of Maturity Onset Diabetes of the Young and its diagnosis in the laboratory. Vive Rev. Salud [online]. 2024, vol.7, n.20, pp.554-570.  Epub 10-Mayo-2024. ISSN 2664-3243.  https://doi.org/10.33996/revistavive.v7i20.322.

Maturity Onset Diabetes of the Young is a rare hereditary subtype that manifests at an early age, related to mutations in specific genes that primarily affect the function of pancreatic beta cells. An accurate diagnosis is crucial for effective treatment, though it can be challenging due to variability in clinical and molecular characteristics. This review examines available evidence on these characteristics and laboratory diagnostic methods. A comprehensive search was conducted in scientific databases, selecting relevant studies based on specific criteria. Clinical features, molecular findings, and diagnostic methods were analyzed using tables, graphs, and narrative synthesis. Genetic mutations associated with MODY were identified, as well as useful biomarkers in clinical laboratory settings. Additionally, molecular diagnostic methods were described, including next-generation sequencing (NGS). This review emphasizes the importance of precise MODY diagnosis, highlighting the diversity of its biological and molecular characteristics, and the need for further research to enhance its identification and clinical management.

Palabras clave : Maturity Onset Diabetes of the Young; Molecular Characteristics; Genes; Molecular Diagnostic Techniques.

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