Diabetes de herencia materna y sordera primer caso en Costa Rica
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| Autores: | , |
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| Formato: | artículo original |
| Estado: | Versión publicada |
| Fecha de Publicación: | 2018 |
| Descripción: | Diabetes Mellitus is a group of complex diseases, characterized by the presence of hyperglycemia. Diabetes can be classified into several categories, type 1 DM, type 2 DM, Gestational Diabetes and other specific types of diabetes: within this category the monogenic diabetes is one of them and its pathophysiological affectation is due to the mutation of a single gene. Maternally inherited diabetes and deafness (MIDD) is a rare type of diabetes mellitus, caused by a mutation in mitochondrial DNA. It affects almost 1% of the population with diabetes but due to its clinical characteristics, it is commonly misdiagnosed by physicians as type 1 or type 2 DM the m.3243A> G mutation that corresponds to a substitution of an adenine molecule with a guanine molecule at position 3243 of the mitochondrial DNA. A family history of diabetes, deafness and macular dystrophy is highly suggestive of the disease and the corresponding diagnostic tests must be performed. We present the case of a female patient diagnosed as type 1 DM at 23 years of age, with a history of bilateral sensorineural deafness, short stature, low BMI, receiving insulin therapy, admitted at the identification of macular dystrophy, detectable C Peptide levels, low IGF-1 and low growth hormone levels, negative Anti-GAD and Anti-Insulin antibodies, raised the possibility of Mitochondrial Diabetes and this diagnosis was further confirmed patient diagnosed and confirmed genetically with MIDD in Costa Rica. |
| País: | Portal de Revistas UCR |
| Institución: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Lenguaje: | Español |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/36060 |
| Acceso en línea: | https://revistas.ucr.ac.cr/index.php/clinica/article/view/36060 |