{"id":2380,"date":"2019-06-24T00:00:00","date_gmt":"2019-06-24T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2380"},"modified":"2019-06-24T00:00:00","modified_gmt":"2019-06-24T00:00:00","slug":"un-estudio-de-cuatro-anos-revela-la-importancia-de-la-lisosoma-gb1-en-el-seguimiento-de-pacientes-con-enfermedad-de-gaucher","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/four-year-study-reveals-importance-of-lyso-gb1-in-monitoring-gaucher-disease-patients\/","title":{"rendered":"Un estudio de cuatro a\u00f1os revela la importancia de la Lyso-Gb1 en el seguimiento de pacientes con enfermedad de Gaucher"},"content":{"rendered":"<p>En un art\u00edculo publicado en junio de 2019 en la revista <em>Revista Internacional de Ciencias Moleculares<\/em>, Un estudio de cuatro a\u00f1os de 81 ni\u00f1os que padecen la enfermedad de Gaucher (EG) de diversa gravedad revela que la glucosilesfingosina (liso-Gb1) es un biomarcador extremadamente preciso para monitorear a los ni\u00f1os que padecen EG.<\/p>\n<p>El estudio, el primero de su tipo en evaluar la funci\u00f3n de la liso-Gb1 en el seguimiento de ni\u00f1os tratados y no tratados, identifica el papel fundamental que la liso-Gb1 puede desempe\u00f1ar en el seguimiento del tratamiento pedi\u00e1trico. A partir de 2014, el estudio evalu\u00f3 los niveles de liso-Gb1 en ni\u00f1os atendidos en el Centro M\u00e9dico Shaare Zedek de Jerusal\u00e9n (Israel) utilizando un biomarcador patentado desarrollado por CENTOGENE. Estudios previos sobre la liso-Gb1 como biomarcador se han centrado \u00fanicamente en pacientes adultos con diabetes gestacional.<\/p>\n<p>Los resultados del estudio revelaron:<\/p>\n<p>Una correlaci\u00f3n significativa entre:<\/p>\n<ul>\n<li>liso-Gb1 y recuento de plaquetas en ni\u00f1os con EG1 leve<\/li>\n<li>Liso-Gb1 y nivel de hemoglobina en ni\u00f1os con EG1 grave<\/li>\n<\/ul>\n<p>Una correlaci\u00f3n inversa significativa entre:<\/p>\n<ul>\n<li>liso-Gb1 y recuento de plaquetas en ni\u00f1os no tratados<\/li>\n<li>Liso-Gb1 y nivel de hemoglobina en ni\u00f1os tratados<\/li>\n<\/ul>\n<p>\u201cSe ha demostrado previamente que la liso-Gb1 es un biomarcador altamente sensible y espec\u00edfico para el diagn\u00f3stico y el seguimiento de pacientes adultos con enfermedad de Gaucher\u201d, coment\u00f3 el Prof. Arndt Rolfs, MD, director ejecutivo de CENTOGENE y autor colaborador del estudio. \u201cLos biomarcadores son extremadamente importantes para el diagn\u00f3stico y el seguimiento del tratamiento de pacientes con enfermedades raras, y en el caso particular de los ni\u00f1os con enfermedad de Gaucher, hemos observado que la liso-Gb1 es un biomarcador extremadamente eficaz para el seguimiento del tratamiento, y de hecho deber\u00eda incluirse en el seguimiento rutinario de estos pacientes\u201d.\u201d<\/p>\n<p>\u201cEl aumento progresivo de los niveles de liso-Gb1 en ni\u00f1os con EG no tratados sugiere que estos pacientes deber\u00edan recibir terapia de reemplazo enzim\u00e1tico\u201d, a\u00f1adi\u00f3 el Prof. Dr. Ari Zimran, del Centro M\u00e9dico Shaare Zedek de la Universidad Hebrea de Jerusal\u00e9n, reconocido experto en la enfermedad de Gaucher y autor colaborador del estudio. \u201cEste estudio internacional ha demostrado una correlaci\u00f3n entre los niveles de liso-Gb1 y la gravedad de la enfermedad en ni\u00f1os con enfermedad de Gaucher, y la importancia de utilizar este biomarcador en el seguimiento de ni\u00f1os tratados y no tratados\u201d.\u201d<\/p>\n<p>La enfermedad de Gaucher es uno de los trastornos de almacenamiento lisosomal de herencia recesiva m\u00e1s prevalentes y causados por una deficiencia en la enzima glucocerebrosidasa.<\/p>\n<p>El art\u00edculo completo se puede descargar <a href=\"https:\/\/www.mdpi.com\/1422-0067\/20\/12\/3033\" target=\"_blank\" title=\"Descargar el documento\">aqu\u00ed<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"<p>In a paper published in June 2019 in the International Journal of Molecular Sciences, a four-year study of 81 children [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2380","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with 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