{"id":8586,"date":"2013-02-28T00:00:00","date_gmt":"2013-02-27T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2013\/02\/28\/un-15-dels-pacients-amb-sindrome-de-wolfram-no-sajusta-als-criteris-actuals-de-diagnostic\/"},"modified":"2022-02-18T16:17:47","modified_gmt":"2022-02-18T15:17:47","slug":"un-15-dels-pacients-amb-sindrome-de-wolfram-no-sajusta-als-criteris-actuals-de-diagnostic","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2013\/02\/un-15-dels-pacients-amb-sindrome-de-wolfram-no-sajusta-als-criteris-actuals-de-diagnostic\/","title":{"rendered":"Un 15% dels pacients amb s\u00edndrome de Wolfram no s\u2019ajusta als criteris actuals de diagn\u00f2stic"},"content":{"rendered":"<p>Els investigadors de l\u2019IDIBELL i del <a href=\"http:\/\/www.ciberer.es\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span class=\"enllac\">CIBERER<\/span><\/a> Virginia Nunes i Miguel L\u00f3pez de Heredia han recopilat les dades de 400 pacients de s\u00edndrome de Wolfram publicades a tot el m\u00f3n en els \u00faltims quinze anys per con\u00e8ixer millor la hist\u00f2ria natural de la malaltia. Les conclusions de l\u2019estudi els porten a proposar la revisi\u00f3 dels criteris de diagn\u00f2stic de la malaltia perqu\u00e8 un 15% de pacients en edat pedi\u00e0trica s\u2019escapen del diagn\u00f2stic.<\/p>\n<p>Els resultats d\u2019aquesta revisi\u00f3 s\u2019han publicat aquesta setmana a l\u2019edici\u00f3 electr\u00f2nica de la revista Genetics in Medicine coincidint amb la celebraci\u00f3 del Dia Mundial de les malalties rares, el 28 de febrer. Les malalties rares o minorit\u00e0ries afecten a tres milions de persones a tot Espanya, 400.000 a Catalunya. El 80% d\u2019aquests desordres, com la s\u00edndrome de Wolfram, s\u00f3n d&#8217;origen gen\u00e8tic, i d\u2019aquestes, la meitat apareixen en edat pedi\u00e0trica.<\/p>\n<p><strong>Criteris actuals<\/strong><\/p>\n<p>La s\u00edndrome de Wolfram \u00e9s una malaltia recessiva, rara, progressiva i neurodegenerativa. Es caracteritza per l\u2019aparici\u00f3 de diferents malalties durant la vida del pacient: diabetis, atr\u00f2fia \u00f2ptica, diabetis ins\u00edpida i sordesa a m\u00e9s d\u2019altres desordres neurol\u00f2gics i nefrol\u00f2gics. Les mutacions en el gen WFS1 s\u00f3n les responsables d\u2019aquestes malalties<\/p>\n<p>Actualment, les caracter\u00edstiques cl\u00edniques que porten a sospitar que el pacient podria patir la s\u00edndrome de Wolfram s\u00f3n la diabetis i atr\u00f2fia \u00f2ptica en edat juvenil (abans dels 18 anys). El diagn\u00f2stic es confirma amb una an\u00e0lisi gen\u00e8tica del pacient.<\/p>\n<p>\u201cDels 400 pacients estudiats arreu del m\u00f3n, un 85% presentava aquestes dues caracter\u00edstiques en edat juvenil. Aix\u00f2 vol dir que un 15% dels pacients s\u2019escapen del diagn\u00f2stic i no comencen a rebre tractament fins molt m\u00e9s tard\u201d ha explicat la investigadora Virginia Nunes. \u201cNosaltres creiem que si ampliem el criteri de diagn\u00f2stic de la malaltia a la identificaci\u00f3 de dues de les quatre caracter\u00edstiques cl\u00edniques de la malaltia, diabetis, atrofia \u00f2ptica, diabetis ins\u00edpida o sordesa, arribar\u00edem a diagnosticar fins al 98% dels pacients\u201d.<\/p>\n<p><strong>Progressi\u00f3 de la s\u00edndrome de Wolfram<\/strong> <strong><\/p>\n<p><\/strong> L\u2019estudi dels investigadors de l\u2019IDIBELL estableix una correlaci\u00f3 entre les diferents mutacions del gen WFS1 i les caracter\u00edstiques cl\u00edniques dels pacients. \u201cHem trobat que les mutacions gen\u00e8tiques es relacionen amb la progressi\u00f3 de la malaltia. \u00c9s la primera vegada que ens aproximem a descriure la progressi\u00f3 malaltia\u201d ha explicat l\u2019investigador Miguel L\u00f3pez de Heredia. \u201cEn tot cas\u201d, adverteix L\u00f3pez de Heredia, \u201caquest estudi \u00e9s nom\u00e9s una primera aproximaci\u00f3. Cal tenir en compte que hem estudiat totes les publicacions de pacients amb s\u00edndrome de Wolfram dels darrers 15 anys que s\u2019han fet amb metodologies i criteris diferents. Falta homogene\u00eftat en les dades\u201d.<\/p>\n<p>Precisament per aix\u00f2 \u00e9s important la feina que s\u2019est\u00e0 realitzant en els registres europeu i espanyol de s\u00edndromes rars. \u201cAll\u00e0 tindrem tota la informaci\u00f3\u201d, diu Nunes, \u201cper poder treballar amb m\u00e9s dades. I \u00e9s que un dels problemes d\u2019investigar malalties rares es poder obtenir un nombre de mostres que pugui ser \u00fatil en la recerca\u201d. <strong><br \/>\n<\/strong><\/p>\n<p><strong><br \/>\n<\/strong> <strong>Refer\u00e8ncia de l\u2019article<\/strong> <strong><br \/>\n<\/strong><strong>L\u00f3pez de Heredia, M. Cl\u00e8ries R. And Nunes, V. <\/strong>Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype<strong>. <\/strong><strong>Genetics in Medicine 2013, Feb 21. doi:10.1038\/gim.2012.18<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Els investigadors de l\u2019IDIBELL i del CIBERER Virginia Nunes i Miguel L\u00f3pez de Heredia han recopilat les dades de 400 pacients de s\u00edndrome de Wolfram publicades a tot el m\u00f3n en els \u00faltims quinze anys per con\u00e8ixer millor la hist\u00f2ria natural de la malaltia. Les conclusions de l\u2019estudi els porten a proposar la revisi\u00f3 dels [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":20574,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","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":[1,396,334,464],"tags":[],"class_list":["post-8586","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar","category-genetica-molecular-humana","category-medicina-translacional","category-p-de-gens-malaltia-i-terapia"],"publishpress_future_action":{"enabled":false,"date":"2024-11-30 05:50:42","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\/8586","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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8586"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8586\/revisions"}],"predecessor-version":[{"id":20576,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8586\/revisions\/20576"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/20574"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8586"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8586"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8586"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}