{"id":10015,"date":"2025-06-18T08:38:33","date_gmt":"2025-06-18T08:38:33","guid":{"rendered":"https:\/\/jurmed.ro\/pacienti\/?p=10015"},"modified":"2025-06-18T08:38:33","modified_gmt":"2025-06-18T08:38:33","slug":"zeci-de-bebelusi-mor-din-cauza-diagnosticelor-intarziate","status":"publish","type":"post","link":"https:\/\/jurmed.ro\/pacienti\/zeci-de-bebelusi-mor-din-cauza-diagnosticelor-intarziate\/","title":{"rendered":"Zeci de bebelusi mor din cauza diagnosticelor intarziate"},"content":{"rendered":"<p><strong>Colestaza neonatala este cea mai frecventa cauza de internare intr-un serviciu de hepatologie pediatrica si de transplant hepatic la copiii cu varsta de pana la 2 ani. Desi poate fi identificata inca din primele saptamani de viata, multi nou-nascuti din Romania ajung prea tarziu la medicul specialist. In lipsa unui diagnostic corect si precoce, interventiile salvatoare devin imposibile, iar viata acestor copii este pusa in pericol.<\/strong><\/p>\n<p>In acest context, Alianta Nationala pentru Boli Rare Romania si Asociatia Romana de Cancere Rare a organizat primul webinar din seria <strong><a href=\"https:\/\/jurmed.ro\/pacienti\/calitatea-vietii-familiilor-afectate-de-boli-rare-este-sever-compromisa\/\">Share Experience<\/a> 2025<\/strong>, intitulat <strong>\u201eBolile colestatice rare: Provocari diagnostice si terapeutice in aceste boli si alte afectiuni hepatice rare\u201d<\/strong>. Evenimentul a reunit specialisti si reprezentanti ai pacientilor, care au atras atentia asupra riscurilor reale provocate de lipsa unui diagnostic precoce si de accesul limitat la tratamente esentiale in Romania.<\/p>\n<p><em>\u201ePrimul webinar <\/em><em>din seria de sase webinarii gazduite sub umbrela ShareExperience 2025 s-a adresat bolilor colestatice rare. Acest webinar a avut ca scop\u00a0 furnizarea de informatii si resurse actualizate profesionistilor din domeniul sanatatii. De asemenea, am abordat si nevoile pacientilor, in special nevoia de organizare de grupuri de suport pentru pacientii cu boli hepatice rare<\/em><em>.<\/em><em>\u201d<\/em> \u2013 spune <strong>Dorica Dan<\/strong><strong>, presedinta ARC Rare.<\/strong><\/p>\n<p>Printre invitatii webinarului s-au numarat: <strong>Prof. Dr. Tudor Lucian Pop<\/strong>, UMF \u201cIuliu Hatieganu\u201d Cluj-Napoca, <strong>Asist. Univ. Dr. Alina Grama<\/strong>, UMF \u201cIuliu Hatieganu\u201d Cluj-Napoca si <strong>Mirela Borhan<\/strong>, presedinta Asociatiei Persoanelor cu Glicogenoza din Romania.<\/p>\n<p>Diagnosticul intarziat inseamna o viata pusa in pericol. Medicii au vorbit despre importanta recunoasterii rapide a semnelor precum icterul persistent, scaunele decolorate si urina hipercroma, simptome frecvente ale colestazei neonatale. <em>\u201e<\/em> <em>Diagnosticul precoce al colestazei neonatale este esential, deoarece permite identificarea rapida a cauzei, precum atrezia de cai biliare unde interventia chirurgicala timpurie poate preveni complicatii severe sau a altor cauze, unele boli genetice, pentru care initierea tratamentului specific si monitorizarea adecvata pot imbunatati semnificativ prognosticul si calitatea vietii copilului.<\/em><em>\u201d,<\/em> a explicat <strong>Asist. Univ. Dr. Alina Grama<\/strong>.<\/p>\n<p>Exemplele prezentate in cadrul webinarului arata impactul direct al intarzierii in diagnostic. Intr-un caz, o fetita diagnosticata la 7 luni cu atrezie de cai biliare a murit la doar 9 luni, desi semnele existau din primele zile de viata. Intr-un alt caz, acelasi diagnostic, dar interventia Kasai a fost efectuata la 6 saptamani, iar copilul este astazi un elev sanatos.<\/p>\n<p>Bolile colestatice rare necesita echipe multidisciplinare si diagnostic genetic avansat. <strong>Prof. Dr. Tudor Pop<\/strong> a subliniat ca <em>\u201e<\/em> <em>In contextul bolilor rare cu afectare hepatica ale copilului, diversitatea patologiei si dificultatea diagnosticului corect impun o mai buna cunoastere a acestor afectiuni de catre personalul medical \u015fi de catre to\u0163i cei care ingrijesc copii, utilizarea testarilor genetice avansate, precum si centralizarea resurselor si expertizei medicale, pentru a facilita accesul la terapii corespunzatoare, inclusiv la medicamente noi, si pentru a imbunatati prognosticul pe termen lung al acestor pacienti<\/em><em>.<\/em><em>\u201d<\/em>.<\/p>\n<p>Asociatia Persoanelor cu Glicogenoza(APG), a prezentat provocarile unei alte boli rare cu impact hepatic. \u201e<em>In Romania, 13 familii sunt afectate de glicogenoza, o boala metabolica ereditara rara, cauzata de o deficienta enzimatica ce impiedica organismul sa transforme zaharul din alimente in energie. Aceasta duce la acumularea anormala de glicogen in organe, afectand functionarea acestora. APG lupta pentru diagnostic precoce, acces la tratamente si sprijin multidisciplinar, contribuind astfel la o viata mai buna pentru pacienti si familiile lor.<\/em>\u201d, ne spune <strong>Mirela Borhan<\/strong>, presedinta Asociatiei Persoanelor cu Glicogenoza din Romania.<\/p>\n<p><em>\u201cEsential pentru pacientii din Romania cu boli colestatice rare si nu numai este diagnosticul precoce, accesul la tratament adecvat, instruirea medicilor de familie si a altor specialisti privind aceste boli, precum si existenta centrelor de expertiza pentru bolile hepatice rare si un traseu al pacientilor cat mai clar in sistemul\u00a0de\u00a0ingrijire.\u201d,<\/em> adauga <strong>Dorica Dan<\/strong><strong>, presedinta ARC Rare.<\/strong><\/p>\n<p>Webinarul a avut ca scop furnizarea de informatii actualizate pentru profesionistii din sanatate, dar si pentru parinti si ingrijitori. Discutiile au subliniat nevoia unui efort coordonat intre sistemul medical, pacienti si autoritati.<\/p>\n<p><em>Webinarul \u201eBolile colestatice rare: Provocari diagnostice si terapeutice in aceste boli si alte afectiuni hepatice rare\u201d este primul dintr-o serie de sase care se vor derula pana la finalul anului sub umbrela Share Experience 2025. <\/em><\/p>\n<p><em>Share Experience 2025 este un proiect organizat de <a href=\"https:\/\/www.bolirareromania.ro\/\">Alianta Nationala pentru Boli Rare<\/a> Romania si Asociatia Romana de Cancere Rare cu sprijinul Ipsen, Novartis, Sanofi, Johnson &amp; Johnson, MSD.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Colestaza neonatala este cea mai frecventa cauza de internare intr-un serviciu de hepatologie pediatrica si de transplant hepatic la copiii cu varsta de pana la 2 ani. Desi poate fi [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":10016,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[1],"tags":[1439,1440,1442,1441],"class_list":["post-10015","post","type-post","status-publish","format-standard","has-post-thumbnail","category-stiri-noutati","tag-colestaza-neonatala","tag-dr-tudor-pop","tag-glicogenoza","tag-share-experience-2025"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.0 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Asociatia Persoanelor cu Glicogenoza din Romania<\/title>\n<meta name=\"description\" content=\"Asociatia Persoanelor cu Glicogenoza(APG), a prezentat provocarile unei alte boli rare cu impact hepatic\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/jurmed.ro\/pacienti\/zeci-de-bebelusi-mor-din-cauza-diagnosticelor-intarziate\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Asociatia Persoanelor cu Glicogenoza din Romania\" \/>\n<meta property=\"og:description\" content=\"Asociatia Persoanelor cu Glicogenoza(APG), a prezentat provocarile unei alte boli rare cu impact hepatic\" \/>\n<meta property=\"og:url\" content=\"https:\/\/jurmed.ro\/pacienti\/zeci-de-bebelusi-mor-din-cauza-diagnosticelor-intarziate\/\" \/>\n<meta property=\"og:site_name\" content=\"Jurmed - 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