Differentiating Among Type 1, Type 2 Diabetes, and MODY: Raising Awareness About the Clinical Implementation of Genetic Testing in Latin America.
| Autor: | César Ernesto LC; Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México., Álvaro EO; Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México., Yayoi SK; Molecular Biology and Genomic Medicine Unit; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Juanita SS; Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México., María Teresa TL; Molecular Biology and Genomic Medicine Unit; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Almeda-Valdes P; Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México. |
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| Jazyk: | angličtina |
| Zdroj: | AACE clinical case reports [AACE Clin Case Rep] 2020 Dec 28; Vol. 7 (2), pp. 138-140. Date of Electronic Publication: 2020 Dec 28 (Print Publication: 2021). |
| DOI: | 10.1016/j.aace.2020.11.033 |
| Abstrakt: | Objective: To describe a case of maturity-onset diabetes of the young (MODY) to highlight the importance of a correct diabetes diagnosis. Methods: We describe a Mexican family misdiagnosed with T1D and T2D. Results: A 36-year-old woman with diabetes and adverse outcomes during 2 pregnancies had been diagnosed with T2D 10 years ago. Genetic testing was performed due to clinical and family history, which showed a pathogenic heterozygous variant c.544G>T (p.Val182Leu) in the GCK gene. This mutation was also confirmed in most of the family members who had been diagnosed with diabetes. Conclusion: This case highlights the need for a correct diabetes classification. Reassessment of diabetes etiology is justified, especially in individuals with unclear clinical presentation or when family history is suggestive. (© 2020 AACE. Published by Elsevier Inc.) |
| Databáze: | MEDLINE |
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