{"id":1246699,"date":"2021-05-19T13:16:47","date_gmt":"2021-05-19T17:16:47","guid":{"rendered":"https:\/\/patientworthy.wpengine.com\/?p=1246699"},"modified":"2021-05-19T13:16:47","modified_gmt":"2021-05-19T17:16:47","slug":"lhistoire-dalexandre-diagnostic-du-syndrome-de-barth-apres-la-perte-de-son-frere","status":"publish","type":"post","link":"https:\/\/patientworthy.com\/fr\/2021\/05\/19\/lhistoire-dalexandre-diagnostic-du-syndrome-de-barth-apres-la-perte-de-son-frere\/","title":{"rendered":"L&rsquo;histoire d&rsquo;Alexandre: diagnostic du syndrome de Barth apr\u00e8s la perte de son fr\u00e8re"},"content":{"rendered":"<p><em><span class=\"TextRun SCXW74212224 BCX0\" lang=\"FR-FR\" xml:lang=\"FR-FR\" data-contrast=\"none\"><span class=\"NormalTextRun SCXW74212224 BCX0\">Tous les documents publi\u00e9s sur PatientWorthy.com sont r\u00e9dig\u00e9s en anglais. Pour la commodit\u00e9 de notre public non anglophone, les traductions de ces documents sont fournies par l\u2019interm\u00e9diaire d\u2019un logiciel de traduction automatique aliment\u00e9 par Google Translate. Toutes les traductions sont fournies en tant que telles, sans garantie d\u2019aucune sorte, explicite ou implicite, quant \u00e0 l\u2019exactitude, la fiabilit\u00e9 ou la justesse de la traduction. Certains contenus (tels que les images, les vid\u00e9os, le Flash, etc.) peuvent ne pas \u00eatre traduits avec pr\u00e9cision en raison des limitations du logiciel de traduction.\u00a0<\/span><\/span><span class=\"TextRun SCXW74212224 BCX0\" lang=\"FR-FR\" xml:lang=\"FR-FR\" data-contrast=\"none\"><span class=\"ContextualSpellingAndGrammarError SCXW74212224 BCX0\">Veuillez vous<\/span><\/span><span class=\"TextRun SCXW74212224 BCX0\" lang=\"FR-FR\" xml:lang=\"FR-FR\" data-contrast=\"none\"><span class=\"NormalTextRun SCXW74212224 BCX0\">\u00a0r\u00e9f\u00e9rer \u00e0 la version anglaise de PatientWorthy.com pour le texte officiel.<\/span><\/span><\/em><\/p>\n<p><span data-contrast=\"none\">Alexander, un an, a re\u00e7u un diagnostic de syndrome de Barth avant sa\u00a0<\/span><span data-contrast=\"none\">naissance;<\/span><span data-contrast=\"none\">\u00a0ses parents savaient qu&rsquo;il fallait tester la maladie apr\u00e8s que leur fils Elias soit d\u00e9c\u00e9d\u00e9 des suites de complications en 2018. Alors que le diagnostic et le traitement pr\u00e9coces sont extr\u00eamement utiles pour de meilleurs r\u00e9sultats, l&rsquo;\u00e9tat d&rsquo;Alexandre a commenc\u00e9 \u00e0 s&rsquo;aggraver. Il a \u00e9t\u00e9 inscrit sur la liste pour une transplantation cardiaque mais s&rsquo;attend \u00e0 une longue attente d&rsquo;un an. Jusque-l\u00e0, il se bat.<\/span><\/p>\n<p><b><span data-contrast=\"none\">\u00c0 propos du syndrome de Barth<\/span><\/b><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"none\">Le\u00a0<\/span><a href=\"https:\/\/patientworthy.com\/barth-syndrome\/\"><span data-contrast=\"none\">syndrome de Barth<\/span><\/a><span data-contrast=\"none\">\u00a0est un trouble m\u00e9tabolique neuromusculaire caract\u00e9ris\u00e9 par des muscles squelettiques et cardiaques anormaux, un retard de croissance et des difficult\u00e9s \u00e0 combattre les infections. C&rsquo;est le r\u00e9sultat d&rsquo;un g\u00e8ne TAZ mut\u00e9, qui est transmis \u00e0 travers le chromosome X. Pour cette raison, il affecte presque exclusivement les hommes. La mutation pose des probl\u00e8mes avec la production de\u00a0<\/span><span data-contrast=\"none\">tafazzines<\/span><span data-contrast=\"none\">, un groupe de prot\u00e9ines qui jouent un r\u00f4le dans la fonction des mitochondries et le d\u00e9veloppement des cellules osseuses. Cela entra\u00eene les sympt\u00f4mes caract\u00e9ristiques, qui\u00a0<\/span><span data-contrast=\"none\">comprennent:<\/span><\/p>\n<ul>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"1\" data-aria-level=\"1\"><span data-contrast=\"none\">Cardiomyopathie<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-contrast=\"none\">Des troubles d&rsquo;apprentissage<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"3\" data-aria-level=\"1\"><span data-contrast=\"none\">Hypotonie<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"4\" data-aria-level=\"1\"><span data-contrast=\"none\">Myopathie squelettique<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"4\" data-aria-level=\"1\"><span data-contrast=\"none\">D\u00e9veloppement retard\u00e9 de la motricit\u00e9<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"4\" data-aria-level=\"1\"><span data-contrast=\"none\">Taux \u00e9lev\u00e9s d&rsquo;acide 3-m\u00e9thylglutaconique dans le sang et l&rsquo;urine<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"4\" data-aria-level=\"1\"><span data-contrast=\"none\">Faiblesse des muscles faciaux<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"4\" data-aria-level=\"1\"><span data-contrast=\"none\">Neutrop\u00e9nie<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" aria-setsize=\"-1\" data-aria-posinset=\"4\" data-aria-level=\"1\"><span data-contrast=\"none\">Cela rend les personnes touch\u00e9es sujettes \u00e0 l&rsquo;infection<\/span><span data-ccp-props=\"{&quot;134233279&quot;:true,&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span data-contrast=\"none\">Il n&rsquo;y a aucun rem\u00e8de pour cette\u00a0<\/span><span data-contrast=\"none\">condition;<\/span><span data-contrast=\"none\">\u00a0le traitement est symptomatique. Les m\u00e9decins se concentreront sur la pr\u00e9vention de l&rsquo;insuffisance cardiaque, qui peut n\u00e9cessiter une transplantation cardiaque.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><b><span data-contrast=\"none\">L&rsquo;histoire d&rsquo;Alexandre<\/span><\/b><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"none\">Les parents d\u2019Alexandre savaient que leur fils avait une chance accrue de na\u00eetre avec le syndrome de Barth car son fr\u00e8re a\u00een\u00e9 Elias \u00e9tait affect\u00e9 par cette maladie. Malheureusement, Elias est d\u00e9c\u00e9d\u00e9 \u00e0 l&rsquo;\u00e9t\u00e9 2018. M\u00eame si les m\u00e9decins ont dit \u00e0 ses parents, Elizabeth et\u00a0<\/span><span data-contrast=\"none\">Nickolas<\/span><span data-contrast=\"none\">, que leur plus jeune avait une infime chance d&rsquo;avoir le syndrome de Barth, ils ont quand m\u00eame opt\u00e9 pour des tests pr\u00e9nataux. Ils ont eu le c\u0153ur bris\u00e9 en apprenant la nouvelle.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"none\">Alors qu\u2019ils \u00e9taient d\u00e9vast\u00e9s, ils savaient qu\u2019Alexandre recevrait le meilleur traitement possible d\u00e8s sa naissance, ce qui n\u2019\u00e9tait pas possible pour Elias. Pendant la premi\u00e8re ann\u00e9e de sa vie, la th\u00e9rapie semblait fonctionner. Il a rencontr\u00e9 toutes les \u00e9tapes normales du d\u00e9veloppement d&rsquo;un enfant en bas \u00e2ge et la famille a travaill\u00e9 en \u00e9troite collaboration avec tous ses m\u00e9decins. Malheureusement, sa sant\u00e9 a commenc\u00e9 \u00e0 se d\u00e9t\u00e9riorer et il a \u00e9t\u00e9 inscrit sur la liste des transplantations cardiaques.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"none\">Apr\u00e8s avoir remarqu\u00e9 qu&rsquo;Alexandre agissait de mani\u00e8re \u00e9trange et l&rsquo;avait emmen\u00e9 \u00e0 l&rsquo;h\u00f4pital, les m\u00e9decins ont inform\u00e9 la famille que son c\u0153ur ne fonctionnait qu&rsquo;\u00e0 quatre pour cent de sa capacit\u00e9. Ils ont d\u00fb prendre des mesures imm\u00e9diates et l&rsquo;ont plac\u00e9 dans un coma m\u00e9dical. Dans un h\u00f4pital de Melbourne, des m\u00e9decins ont implant\u00e9 un c\u0153ur berlinois. Cet appareil est administr\u00e9 aux patients atteints d&rsquo;insuffisance cardiaque en phase terminale.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"none\">Toute la famille attend impatiemment d&rsquo;entendre quand Alexandre pourra recevoir son c\u0153ur. En attendant, vous pouvez les aider en faisant un don \u00e0 leur collecte de\u00a0<\/span><a href=\"https:\/\/www.gofundme.com\/f\/alexanders-heart-transplant?utm_campaign=p_cp_url&amp;utm_medium=os&amp;utm_source=customer\"><span data-contrast=\"none\">fonds<\/span><\/a><span data-contrast=\"none\">.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"none\">Trouvez l&rsquo;article source\u00a0<\/span><a href=\"https:\/\/www.msn.com\/en-au\/news\/australia\/parents-learn-baby-is-dying-of-rare-disease-that-killed-his-brother\/ar-BB1gd1xx?ocid=BingNewsSearch\"><span data-contrast=\"none\">ici<\/span><\/a><span data-contrast=\"none\">.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240,&quot;469777462&quot;:[916,1832,2748,3664,4580,5496,6412,7328,8244,9160,10076,10992,11908,12824,13740,14656],&quot;469777927&quot;:[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],&quot;469777928&quot;:[1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1]}\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tous les documents publi\u00e9s sur PatientWorthy.com sont r\u00e9dig\u00e9s en anglais. Pour la commodit\u00e9 de notre public non anglophone, les traductions de ces documents sont fournies par l\u2019interm\u00e9diaire d\u2019un logiciel de traduction automatique aliment\u00e9 par Google Translate. Toutes les traductions sont fournies en tant que telles, sans garantie d\u2019aucune sorte, explicite ou implicite, quant \u00e0 l\u2019exactitude, [&hellip;]<\/p>\n","protected":false},"author":1025,"featured_media":196469,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[13986],"tags":[],"_links":{"self":[{"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/posts\/1246699"}],"collection":[{"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/users\/1025"}],"replies":[{"embeddable":true,"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/comments?post=1246699"}],"version-history":[{"count":0,"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/posts\/1246699\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/media\/196469"}],"wp:attachment":[{"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/media?parent=1246699"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/categories?post=1246699"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/patientworthy.com\/fr\/wp-json\/wp\/v2\/tags?post=1246699"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}