{"id":10635,"date":"2021-07-19T23:36:04","date_gmt":"2021-07-19T20:36:04","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=10635"},"modified":"2022-05-24T10:07:36","modified_gmt":"2022-05-24T07:07:36","slug":"canavan-hastaligi","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/canavan-hastaligi\/","title":{"rendered":"Canavan Hastal\u0131\u011f\u0131"},"content":{"rendered":"\n<p style=\"font-size:17px\">Canavan&nbsp;hastal\u0131\u011f\u0131 ya&nbsp;da&nbsp;Merkezi sinir sisteminin s\u00fcngerimsi dejenerasyonu,&nbsp;mesaj al\u0131\u015fveri\u015fi yetene\u011fine sahip olan n\u00f6ronlar\u0131n&nbsp;harabiyetiyle&nbsp;olu\u015fan nadir bir hastal\u0131kt\u0131r.&nbsp;Otomozal&nbsp;resesif kal\u0131t\u0131m ile olu\u015fur.&nbsp;&nbsp;Bu hastal\u0131k,&nbsp;l\u00f6kodistrofi&nbsp;ad\u0131 verilen bir grup genetik bozukluktan biridir.&nbsp;L\u00f6kodistrofiler, sinirleri koruyan ve sinir uyar\u0131lar\u0131n\u0131n verimli bir \u015fekilde iletilmesini sa\u011flayan&nbsp;miyelin&nbsp;k\u0131l\u0131f\u0131n\u0131n b\u00fcy\u00fcmesini veya i\u015flevini bozmaktad\u0131r.&nbsp;<\/p>\n\n\n\n<p style=\"font-size:17px\">Bu durum t\u00fcm etnik k\u00f6kenlerden insanlarda g\u00f6r\u00fcl\u00fcrken, en \u00e7ok&nbsp;A\u015fkenaz&nbsp;(Do\u011fu ve Orta Avrupa) Yahudi&nbsp;insanlarda g\u00f6r\u00fclmektedir.&nbsp;Ara\u015ft\u0131rmalar, bu bozuklu\u011fun&nbsp;A\u015fkenazi&nbsp;Yahudi n\u00fcfusundaki 6.400 ila 13.500 ki\u015fiden 1&#8217;ini etkiledi\u011fini g\u00f6steriyor.&nbsp;&nbsp;<\/p>\n\n\n\n<h2>Canavan Hastal\u0131\u011f\u0131 Nas\u0131l Olu\u015fur?<\/h2>\n\n\n\n<p style=\"font-size:17px\">Canavan&#8217;a,&nbsp;aspartoasilaz\u0131&nbsp;(ASPA) kodlayan gendeki mutasyonlardan kaynaklanan bir enzim eksikli\u011fi neden olur.&nbsp;ASPA normalde&nbsp;lipogenez&nbsp;ve&nbsp;ozmotik&nbsp;d\u00fczenlemede rol oynad\u0131\u011f\u0131 d\u00fc\u015f\u00fcn\u00fclen bir asit olan N-asetil-aspartat\u0131&nbsp;(NAA) hidrolize eder.&nbsp;ASPA olmadan, NAA beyinde birikir. NAA birikimi ile ortaya \u00e7\u0131kan kimyasal dengesizlikler,&nbsp;miyelin&nbsp;k\u0131l\u0131f\u0131n olu\u015fmas\u0131n\u0131 engellemesinin&nbsp;yan\u0131nda mevcut&nbsp;miyelin&nbsp;k\u0131l\u0131fa da zarar verir.&nbsp;&nbsp;Demiyelinizasyon&nbsp;ise sinir sinyallerinin iletimini engeller. Normal beyin geli\u015fimi bozulur.&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image is-resized\"><img loading=\"lazy\" src=\"https:\/\/photos.the-scientist.com\/content\/figures\/images\/yr2001\/sep17\/normal.jpg\" alt=\"\" width=\"324\" height=\"170\" \/><figcaption>Canavan hastal\u0131\u011f\u0131 olan bir hastaya k\u0131yasla normal bir hastadan al\u0131nan sagital n\u00fckleer MR g\u00f6r\u00fcnt\u00fcs\u00fc.&nbsp;<br>Canavan hastas\u0131nda beyin dokusu atrofisi, ventrik\u00fcler bo\u015fluklar\u0131n geni\u015flemesi ve corpus callosum ve di\u011fer lif yollar\u0131n\u0131n incelmesi ile birlikte fark edilir.<br><\/figcaption><\/figure>\n\n\n\n<h2>Canavan Hastal\u0131\u011f\u0131n\u0131n Semptomlar\u0131 Nelerdir?<\/h2>\n\n\n\n<ul><li>Optik sinir&nbsp;atrofisi&nbsp;<\/li><li>Makrosefali&nbsp;<\/li><li>L\u00f6kodistrofi&nbsp;<\/li><li>Hipotoni<\/li><li>\u0130\u015fitme kayb\u0131&nbsp;<\/li><li>K\u00f6rl\u00fck<\/li><li>Nistagmus&nbsp;<\/li><li>Gastro\u00f6zafagial&nbsp;refl\u00fc&nbsp;<\/li><li>Eklemleri d\u00fczeltememe&nbsp;<\/li><li>Zihinsel ve fiziksel geli\u015fim bozuklu\u011fu&nbsp;<\/li><li>Bebeklikte beslenme bozukluklar\u0131&nbsp;<\/li><\/ul>\n\n\n\n<h2>Hastal\u0131\u011f\u0131n Te\u015fhisi ve Tedavisi Nas\u0131l Yap\u0131l\u0131r?<\/h2>\n\n\n\n<p style=\"font-size:17px\">Semptomlara ek olarak idrarda y\u00fcksek NAA seviyeleri g\u00f6r\u00fclmekte. Manyetik Rezonans Spektroskopi(MRS) ile y\u00fcksek duyarl\u0131l\u0131k ve \u00f6zg\u00fcll\u00fckte tan\u0131 konulur.&nbsp;<\/p>\n\n\n\n<p style=\"font-size:17px\">Canavan\u2019\u0131n&nbsp;spesifik bir tedavisi yoktur, semptomlar\u0131 \u00f6nlenebilir ya da azalt\u0131labilir.&nbsp;<\/p>\n\n\n\n<p><strong>KAYNAK\u00c7A<\/strong><\/p>\n\n\n\n<p>Canavan Hastal\u0131\u011f\u0131 <a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/5984\/canavan-disease\" data-type=\"URL\" data-id=\"https:\/\/rarediseases.info.nih.gov\/diseases\/5984\/canavan-disease\">NIH<\/a><\/p>\n\n\n\n<p>Canavan Hastal\u0131\u011f\u0131<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/canavan-disease\/#resources\" data-type=\"URL\" data-id=\"https:\/\/medlineplus.gov\/genetics\/condition\/canavan-disease\/#resources\"> Medline<\/a><\/p>\n\n\n\n<p>Canavan Hastal\u0131\u011f\u0131 <a href=\"https:\/\/omim.org\/entry\/271900\" data-type=\"URL\" data-id=\"https:\/\/omim.org\/entry\/271900\">OMIM<\/a><\/p>\n\n\n\n<p>Havva AKMAZ \u00dcNL\u00dc, Nam\u0131k Kemal ALTINBA\u015e, Serap TEBER, Bet\u00fcl Emine DER\u0130NKUYU, S\u00fcleyman Ersin \u00dcNL\u00dc, Nadide Ba\u015fak G\u00dcLERO\u011eLU, Aydan DE\u011eERL\u0130YURT, Canavan Hastal\u0131\u011f\u0131 Mrg ve Mrs Bulgular\u0131: 3 Ayr\u0131 Olgu,2013\/ Eri\u015fim tarihi: 18 Temmuz 2021<\/p>\n\n\n\n<p>David Pleasure,&nbsp;Fuzheng Guo,&nbsp;Olga Chechneva,&nbsp;Peter Bannerman,&nbsp;Jennifer McDonoug,&nbsp;Travis Burns,&nbsp;Yan Wang,&nbsp;Vanessa Hull, Pathophysiology and Treatment of Canavan Disease<sup>&nbsp;<\/sup>, Mart 2020\/ Eri\u015fim Tarihi: 18 Temmuz 2021<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Canavan&nbsp;hastal\u0131\u011f\u0131 ya&nbsp;da&nbsp;Merkezi sinir sisteminin s\u00fcngerimsi dejenerasyonu,&nbsp;mesaj al\u0131\u015fveri\u015fi yetene\u011fine sahip olan n\u00f6ronlar\u0131n&nbsp;harabiyetiyle&nbsp;olu\u015fan nadir bir hastal\u0131kt\u0131r.&nbsp;Otomozal&nbsp;resesif kal\u0131t\u0131m ile olu\u015fur.&nbsp;&nbsp;Bu hastal\u0131k,&nbsp;l\u00f6kodistrofi&nbsp;ad\u0131 verilen bir<\/p>\n","protected":false},"author":386,"featured_media":10636,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[2166,115,2168,2167,956,722],"acf":[],"views":842,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10635"}],"collection":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/users\/386"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=10635"}],"version-history":[{"count":6,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10635\/revisions"}],"predecessor-version":[{"id":11207,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10635\/revisions\/11207"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/10636"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=10635"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=10635"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=10635"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}