{"id":552,"date":"2026-08-19T10:06:21","date_gmt":"2026-08-19T10:06:21","guid":{"rendered":"https:\/\/www.pinargencpinar.com\/?page_id=552"},"modified":"2026-08-19T20:28:25","modified_gmt":"2026-08-19T20:28:25","slug":"nadir-hastaliklar","status":"publish","type":"page","link":"https:\/\/www.pinargencpinar.com\/en\/nadir-hastaliklar\/","title":{"rendered":"Nadir Hastal\u0131klar"},"content":{"rendered":"
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06<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Nadir Hastal\u0131klar<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Nadir G\u00f6r\u00fclen N\u00f6rolojik Hastal\u0131klar\u0131n De\u011ferlendirilmesi<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Nadir hastal\u0131klarda tan\u0131 s\u00fcreci; \u00e7ocu\u011fun klinik bulgular\u0131n\u0131n, geli\u015fimsel \u00f6zelliklerinin, aile \u00f6yk\u00fcs\u00fcn\u00fcn ve gerekti\u011finde genetik incelemelerin birlikte de\u011ferlendirilmesini gerektirir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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Nadir Hastal\u0131klar Nedir?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Nadir hastal\u0131klar, toplumda daha az s\u0131kl\u0131kta g\u00f6r\u00fclen ve \u00f6nemli bir b\u00f6l\u00fcm\u00fcnde genetik nedenlerin rol oynad\u0131\u011f\u0131 hastal\u0131klar\u0131 kapsar. \u00c7ocukluk \u00e7a\u011f\u0131nda baz\u0131 nadir hastal\u0131klar n\u00f6rolojik bulgular, geli\u015fimsel farkl\u0131l\u0131klar, epilepsi, hareket bozukluklar\u0131 veya kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc gibi farkl\u0131 belirtilerle ortaya \u00e7\u0131kabilir.<\/p>

Bu hastal\u0131klar\u0131n tan\u0131s\u0131nda \u00e7ocu\u011fun klinik \u00f6zelliklerinin ayr\u0131nt\u0131l\u0131 de\u011ferlendirilmesi, aile \u00f6yk\u00fcs\u00fcn\u00fcn incelenmesi ve gerekti\u011finde genetik veya metabolik ara\u015ft\u0131rmalar\u0131n planlanmas\u0131 \u00f6nem ta\u015f\u0131r.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tNadir hastal\u0131klarda tan\u0131 s\u00fcreci zaman alabilir.\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tBir\u00e7ok nadir hastal\u0131k farkl\u0131 n\u00f6rolojik belirtilerle ortaya \u00e7\u0131kabilir. Bu nedenle tan\u0131sal s\u00fcre\u00e7te klinik bulgular\u0131n bir b\u00fct\u00fcn olarak de\u011ferlendirilmesi ve gerekti\u011finde farkl\u0131 uzmanl\u0131k alanlar\u0131yla birlikte \u00e7al\u0131\u015f\u0131lmas\u0131 \u00f6nemlidir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKlinik De\u011ferlendirme\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t\u00c7ocu\u011fun n\u00f6rolojik bulgular\u0131, geli\u015fimsel \u00f6zellikleri ve hastal\u0131k \u00f6yk\u00fcs\u00fc ayr\u0131nt\u0131l\u0131 olarak de\u011ferlendirilir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAile \u00d6yk\u00fcs\u00fc\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tAilede benzer hastal\u0131klar\u0131n, erken ya\u015fta ortaya \u00e7\u0131kan n\u00f6rolojik bulgular\u0131n ve akrabal\u0131k \u00f6yk\u00fcs\u00fcn\u00fcn varl\u0131\u011f\u0131 dikkate al\u0131n\u0131r.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGenetik De\u011ferlendirme\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tKlinik bulgulara g\u00f6re uygun genetik testler ve molek\u00fcler incelemeler planlanabilir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGerekli Di\u011fer \u0130ncelemeler\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tKlinik duruma g\u00f6re g\u00f6r\u00fcnt\u00fcleme, metabolik incelemeler veya di\u011fer tan\u0131sal y\u00f6ntemlerden yararlan\u0131labilir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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Nadir N\u00f6rolojik Hastal\u0131klara Yakla\u015f\u0131m<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Nadir n\u00f6rolojik hastal\u0131klar\u0131n klinik bulgular\u0131 ve seyri hastal\u0131ktan hastal\u0131\u011fa farkl\u0131l\u0131k g\u00f6sterebilir. Baz\u0131 hastal\u0131klar erken \u00e7ocukluk d\u00f6neminde epilepsi veya geli\u015fimsel farkl\u0131l\u0131klarla ortaya \u00e7\u0131karken, baz\u0131lar\u0131 hareket bozukluklar\u0131, kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc veya di\u011fer n\u00f6rolojik bulgularla kendini g\u00f6sterebilir.<\/p>

Tan\u0131sal yakla\u015f\u0131mda klinik de\u011ferlendirme, genetik incelemeler ve gerekti\u011finde di\u011fer laboratuvar veya g\u00f6r\u00fcnt\u00fcleme y\u00f6ntemlerinin birlikte ele al\u0131nmas\u0131, hastal\u0131\u011f\u0131n nedeninin anla\u015f\u0131lmas\u0131na katk\u0131 sa\u011flayabilir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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Nadir Hastal\u0131klar Alan\u0131ndaki Bilimsel \u00c7al\u0131\u015fmalar<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Nadir ve tan\u0131 konulamayan hastal\u0131klar, Prof. Dr. P\u0131nar Gen\u00e7p\u0131nar’\u0131n akademik \u00e7al\u0131\u015fmalar\u0131nda yer alan \u00f6nemli alanlardan biridir. Genetik ve n\u00f6rolojik bulgular\u0131n birlikte de\u011ferlendirildi\u011fi ara\u015ft\u0131rmalar\u0131n yan\u0131 s\u0131ra nadir hastal\u0131klar\u0131n molek\u00fcler mekanizmalar\u0131 ve tan\u0131sal s\u00fcre\u00e7leri \u00fczerine \u00e7al\u0131\u015fmalarda yer almaktad\u0131r.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t2019\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tThe Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Pediatric Neurology<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t2025\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tManagement of rare and undiagnosed diseases: insights from researchers and healthcare professionals in T\u00fcrkiye\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Frontiers in Public Health<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\tHistone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Frontiers in Cell and Developmental Biology<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Di\u011fer Uzmanl\u0131k Alanlar\u0131<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tEpilepsi\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGeli\u015fimsel N\u00f6roloji\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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06 Nadir Hastal\u0131klar Nadir G\u00f6r\u00fclen N\u00f6rolojik Hastal\u0131klar\u0131n De\u011ferlendirilmesi Nadir hastal\u0131klarda tan\u0131 s\u00fcreci; \u00e7ocu\u011fun klinik bulgular\u0131n\u0131n, geli\u015fimsel \u00f6zelliklerinin, aile \u00f6yk\u00fcs\u00fcn\u00fcn ve gerekti\u011finde genetik incelemelerin birlikte de\u011ferlendirilmesini gerektirir. Nadir Hastal\u0131klar Nedir? Nadir hastal\u0131klar, toplumda daha az s\u0131kl\u0131kta g\u00f6r\u00fclen ve \u00f6nemli bir b\u00f6l\u00fcm\u00fcnde genetik nedenlerin rol oynad\u0131\u011f\u0131 hastal\u0131klar\u0131 kapsar. \u00c7ocukluk \u00e7a\u011f\u0131nda baz\u0131 nadir hastal\u0131klar n\u00f6rolojik bulgular, geli\u015fimsel farkl\u0131l\u0131klar,…<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_kad_post_transparent":"default","_kad_post_title":"hide","_kad_post_layout":"fullwidth","_kad_post_sidebar_id":"","_kad_post_content_style":"unboxed","_kad_post_vertical_padding":"hide","_kad_post_feature":"hide","_kad_post_feature_position":"","_kad_post_header":false,"_kad_post_footer":false,"_kad_post_classname":"","footnotes":""},"class_list":["post-552","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/552","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/comments?post=552"}],"version-history":[{"count":25,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/552\/revisions"}],"predecessor-version":[{"id":915,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/552\/revisions\/915"}],"wp:attachment":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/media?parent=552"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}