Antioxidants<\/em><\/a>, ha estat coordinat per Virginia Nunes, investigadora de l’Institut de Recerca Biom\u00e8dica de Bellvitge (IDIBELL) i catedr\u00e0tica de la Universitat de Barcelona (UB). El primer signant \u00e9s l’investigador de el Centre d’Investigaci\u00f3 Biom\u00e8dica en Xarxa de Malalties Rares (CIBERER) Miguel L\u00f3pez de Heredia. En el treball han participat els grups dels Drs. Carmen Serra i Amadeu Llebaria de l’IQAC-CSIC, del Dr. Ciriaco Carru de la Universitat de S\u00e0sser (It\u00e0lia) i del Dr. Yukio Kato de la Universitat de Kanazawa (Jap\u00f3).<\/p>\nEls pacients amb cistin\u00faria solen intercalar episodis de formaci\u00f3 de c\u00e0lculs (litiasi) amb altres per\u00edodes en qu\u00e8 no es detecta la pres\u00e8ncia de pedres. En moltes ocasions les pedres s\u00f3n eliminades mitjan\u00e7ant intervencions quir\u00fargiques, amb una mitjana d’una cirurgia cada tres anys.<\/p>\n
La pres\u00e8ncia de les pedres de cistina en els pacients es monitoritza regularment mitjan\u00e7ant diverses t\u00e8cniques com cristaluria (detecci\u00f3 i an\u00e0lisi dels vidres en orina) o la determinaci\u00f3 de la capacitat de l’orina per dissoldre la cistina i diversos procediments d’imatge (raigs X, ecografia, TAC, …). Tots aquests m\u00e8todes tenen una limitada capacitat predictiva per al cas de les pedres de cistina.<\/p>\n
Per tot aix\u00f2, es fa necessari disposar de nous marcadors fiables i senzills per a la pr\u00e0ctica cl\u00ednica habitual, que siguin capa\u00e7os de determinar la pres\u00e8ncia de les pedres de cistina en estadis liti\u00e0sics poc avan\u00e7ats o fins i tot predir la seva aparici\u00f3. La seva exist\u00e8ncia permetria als pacients amb cistin\u00faria accedir a tractaments en els estadis inicials de formaci\u00f3 de les pedres o a tractaments preventius si es don\u00e9s un risc elevat d’aparici\u00f3.<\/p>\n
El possible biomarcador de la pres\u00e8ncia de pedres identificat en aquest treball, basat en la quantificaci\u00f3 de dos compostos en l’orina, ha mostrat ser capa\u00e7 de detectar la pres\u00e8ncia de pedres de cistina en un model de ratol\u00ed de la malaltia independentment de l’edat i el sexe.<\/p>\n
<\/p>\n
Sobre la cistin\u00faria<\/h4>\n
La cistin\u00faria \u00e9s una malaltia gen\u00e8tica rara que es caracteritza per la pres\u00e8ncia de pedres de cistina en el tracte urinari i afecta a 1 de cada 7000 persones. La formaci\u00f3 de c\u00e0lculs (litiasi) de cistina suposa entre l’1 i el 2% de totes les litiasis renals i al voltant de l’6-8% de les pedi\u00e0triques. Est\u00e0 causada per un defecte en el transportador d’amino\u00e0cids encarregat de reabsorbir cistina, arginina, ornitina i lisina. Encara que aquest transportador es troba tant en intest\u00ed com a rony\u00f3, les conseq\u00fc\u00e8ncies de la seva falta s\u00f3n m\u00e9s evident en aquest \u00faltim ja que no es reabsorbeixen els citats amino\u00e0cids, pel que s\u00f3n excretats en quantitats elevades per l’orina. Precisament un d’ells, la cistina, per la seva baixa solubilitat a pH fisiol\u00f2gic de l’orina, precipita formant pedres de cistina en el tracte urinari. Aquesta \u00e9s la conseq\u00fc\u00e8ncia cl\u00ednica d’aquesta malaltia i el que provoca que els pacients tinguin c\u00e0lculs de rony\u00f3 en algun moment o de forma recurrent i, per tant, una mala qualitat de vida.<\/p>\n
<\/p>\n
<\/p>\n
L\u2019Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l’Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l’Institut Catal\u00e0 de la Salut, l’Institut Catal\u00e0 d’Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\nL\u2019IDIBELL \u00e9s membre del Campus d’Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L’any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"Un nou estudi ha identificat en un model mur\u00ed de cistin\u00faria un possible biomarcador de l’aparici\u00f3 de les pedres de cistina en el tracte urinari.<\/p>\n","protected":false},"author":8,"featured_media":19136,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[396,334,464],"tags":[],"class_list":["post-19135","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetica-molecular-humana","category-medicina-translacional","category-p-de-gens-malaltia-i-terapia"],"publishpress_future_action":{"enabled":false,"date":"2024-12-29 05:52:59","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/19135","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=19135"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/19135\/revisions"}],"predecessor-version":[{"id":19137,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/19135\/revisions\/19137"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/19136"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=19135"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=19135"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=19135"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}