Symposium 1: Monogenic diabetes

Authors

  • Alejandro de Dios Carlos G. Durand Hospital; Hospital de Clínicas José de San Martín, Autonomous City of Buenos Aires, Argentina

DOI:

https://doi.org/10.47196/diab.v54i3Sup.276

Keywords:

diabetes, diagnosis

Abstract

Symposium 1: When diabetes is not autoimune

Monogenic diabetes

A precise diagnosis of a diabetes subtype (DM) is extremely important. This is evident on the case of neonatal DM, a small DM subgroup which is diagnosed before 6 months of age. Diabetes caused by mutations on the inward rectifier potassium channels Kir6.2 is an extraordinary example of pharmacogenetics because switching to an insulin treatment by high-dose sulfonylureas improves not only glycemic control but also neurological diagnose. 

The diagnosis of DM subtypes becomes more difficult for adolescents and young adults (20-40 years old). For this age group, the algorithm proposed by Florez, which takes into account the phenotype, C-peptide, the presence of autoantibodies  and T1D's genetic risk score, is very useful and can diagnose the most frequent subtype of monogenetic DM: Maturity onset diabetes of the young (MODY). MODY is an heterogenous condition, from a genetic, metabolic and clinical perspective and its common and triggering factor is insulin hyposecretion.

Author Biography

Alejandro de Dios, Carlos G. Durand Hospital; Hospital de Clínicas José de San Martín, Autonomous City of Buenos Aires, Argentina

Physician, University Specialist in Internal Medicine; Staff Physician of the Medical Clinic Service, Carlos G. Durand Hospital; Physician of the Genetic Division of the José de San Martín Clinic Hospital

References

-1- Pearson ER, et al. Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations. N Engl J Med 2006; 355:467-477.

-2- Florez JC. Found in Translation: A Type 1 Diabetes Genetic Risk Score Applied to Clinical Diagnosis. Diabetes Care 2016; 39:330-332.

-3- Peixoto-Barbosa R, et al. Update on clinical screening of maturity-onset diabetes of the young (MODY). Diabetol Metab Syndr 12, 50 (2020). https://doi.org/10.1186/s13098-020-00557-9.

-4- GoodSmith MS, et al. The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing. Diabetes Care 2019; 42(12):2247-2255. https://doi.org/10.2337/dc19-0486.

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Published

2023-01-10

How to Cite

de Dios, A. (2023). Symposium 1: Monogenic diabetes. Journal of the Argentine Society of Diabetes, 54(3Sup), 9–9. https://doi.org/10.47196/diab.v54i3Sup.276

Issue

Vol. 54 No. 3Sup (2020): September/December 2020

Section

Symposium Part 1

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Dirección Nacional de Derecho de Autor, Exp. N° 5.333.129. Instituto Nacional de la Propiedad Industrial, Marca «Revista de la Sociedad Argentina de Diabetes - Asociación Civil» N° de concesión 2.605.405 y N° de disposición 1.404/13.

La Revista de la SAD está licenciada bajo Licencia Creative Commons Atribución – No Comercial – Sin Obra Derivada 4.0 Internacional.

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