Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura
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Lozada Martinez, I. D., Bolaño Romero, M. P., Suarez Causado, A., & Diaz Gonzalez, A. C. (2020). Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura. Archivos De Medicina , 20(2), 461-471. https://doi.org/10.30554/archmed.20.2.3624.
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Lozada Martinez, I. D., Bolaño Romero, M. P., Suarez Causado, A., & Diaz Gonzalez, A. C. (2020). Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura. Archivos De Medicina , 20(2), 461-471. https://doi.org/10.30554/archmed.20.2.3624.
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Este trabalho está licenciado sob uma licença Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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La abetalipoproteinemia es una enfermedad rara que se suele presentarse en la primera década de la vida; sus principales manifestaciones son esteatorrea, alteración en el desarrollo y niveles plasmáticos lipídicos considerablemente disminuidos. Sin embargo, este cuadro suele ser confuso, puesto que existe un grupo de desórdenes genéticos que conllevan a mala absorción lipídica, que requieren un exhaustivo diagnóstico diferencial desde el punto de vista clínico, bioquímico y molecular. Este artículo expone una revisión actualizada sobre la abetalipoproteinemia, enfocándose en su fisiopatología, manifestaciones sistémicas, diagnóstico y abordaje en general, para facilitar su comprensión integral. La estrategia de búsqueda y los métodos de selección de estudios se realizó con base en elementos de la declaración prisma y guías Cochrane, utilizando términos de búsqueda tales como “abetalipoproteinemia” ,“bioquímica” y sinónimos, los cuales fueron combinados con los operadores “and” y “or”, en las bases de datos PubMed, Science Direct, Clinical Key y Ebsco. No existe mucha literatura específica sobre esta condición, lo cual explica que sea una entidad subvalorada y poco conocida. Es fundamental realizar más investigaciones en torno al tema, pues en caso de no establecerse un diagnóstico y manejo adecuado, las complicaciones serán muchas y severas.
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