Estudios de agregación plaquetaria como endofenotipo de las alteraciones hereditarias de la fibra colágena
Keywords:
agregación plaquetaria, endofenotipo, alteraciones hereditarias, fibra colágenaAbstract
Introducción: las plaquetas contribuyen a la hemostasia y la interrupción heredada o adquirida en sus procesos bioquímicospuede alterar la función plaquetaria. Estos trastornos de agregación se hanasociado aenfermedades genéticas con afectación del tejido conectivo como el síndrome Ehlers Danlos, cuyo diagnóstico diferencial con el espectro dehipermovilidad articular resulta difícil clínica y molecularmente.Estas entidades con afectación en las fibras colágenas y diferente repercusión clínica, precisan diferenciales en su diagnóstico clínico.
Métodos: se revisaron 353 Historias Clínicas de pacientes atendidos en el servicio de Genética del Hospital Pediátrico William Soler desde septiembre del 2009-2012, con diagnósticode Hipermovilidad articular por criterios de Beightony de Ehlers Danlos según Villefranche (1997). Se incluyeron los pacientes de 5-18 años con resultados documentados del estudio de agregación plaquetariavalorados por especialista en hematología.
Resultados: se encontraron trastornos de agregación plaquetaria en 79 de 86 pacientes (92%). En 7 casos con hipermovilidad los resultados fueronnegativosde 65 con este diagnóstico (10%). Los 21 con SíndromeEhlersDanlos tuvieron afectaciones con los fosfolípidos plaquetarios. La hipermovilidad articular estuvo asociada a la combinación ADP-epinefrina y el EhlersDanlos a la combinación ADP-epinefrina-colágeno-fosfolípidos.
Conclusiones: los pacientes con hipermovilidad articular mostraron asociación adefectos de liberación de gránulos con agonistas como el ADP-epinefrina y los EhlersDanlos con la disponibilidad de los fosfolípidos, relacionados al cambio de forma plaquetaria.Este resultado puede ser una herramienta para conocer el endofenotipo funcional plaquetario como elemento diferencial en los trastornos de la fibra colágena.
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