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Yenny P. Guatibonza

Rafael Eduardo Rodríguez

Juan Pablo Córdoba

Ignacio Zarante

Resumen

La enfermedad renal poliquística (PKD) es una enfermedad genética común que consiste en la aparición progresiva de lesiones quísticas en los riñones, que remplazan el parénquima renal, lo que conduce a enfermedad renal crónica terminal. La PKD tiene dos patrones de herencia: autosómico dominante y autosómico recesivo. La forma autosómica dominante es más común y menos grave que la autosómica recesiva. Se conoce que la PKD es causada por mutación en varios loci humanos. La forma autosómica dominante puede ser causada por mutaciones en dos genes diferentes (PKD1 y PKD2); en tanto que la forma autosómica recesiva solo tiene un gen causal (PKHD1). Existen numerosas publicaciones que buscan explicar la fisiopatología de la enfermedad. Esto refleja un esfuerzo internacional por comprender la naturaleza de la enfermedad, para desarrollar terapias que eviten la aparición de los quistes o la progresión de los que ya están instaurados. El objetivo de esta revisión es difundir el conocimiento que se tiene hasta el momento, acerca de la enfermedad renal poliquística. Por lo tanto, realizamos un breve recuento de las características clínicas de la enfermedad y el tratamiento actual disponible.

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Keywords

enfermedades renales poliquísticas, hipertensión, túbulo, riñón, genética

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Cómo citar
Guatibonza, Y., Rodríguez, R., Córdoba, J., & Zarante, I. (2012). Actualidad de la enfermedad renal poliquística. Universitas Medica, 54(1), 53-68. Recuperado a partir de https://revistas.javeriana.edu.co/index.php/vnimedica/article/view/16179
Sección
Artículos de revisión