Polimorfismos genéticos y alteraciones clínicas presentes en pacientes con anemia de Fanconi
Resumen
La anemia de Fanconi es una enfermedad hereditaria con una incidencia mundial baja, con variedad genotípica asociada a alteraciones hematológicas y procesos neoplásicos, lo que la convierte en una enfermedad con un mal pronóstico y una tasa de supervivencia baja, si no es detectada a tiempo. Actualmente la variable más común de la enfermedad es la anemia de Fanconi tipo A, que posee manifestaciones clínicas como microcefalia, fístula traqueoesofágica o microftalmia, estando presente en más de la mitad de los pacientes con anemia de Fanconi. El diagnóstico de esta se basa en las manifestaciones clínicas y se confirma mediante pruebas de fragilidad cromosómica, lo que facilita la conducta a tomar por el personal médico para dar un tratamiento oportuno. Lo que se desarrollará a lo largo de la lectura son el método diagnóstico, tratamiento y alteraciones genotípicas y fenotípicas de la anemia de Fanconi.
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Derechos de autor 2024 Santiago Ramirez-Arango
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