{"id":11625,"date":"2022-07-03T16:10:26","date_gmt":"2022-07-03T13:10:26","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=11625"},"modified":"2022-07-05T13:45:34","modified_gmt":"2022-07-05T10:45:34","slug":"bubble-boy-sendromu-ve-david-vetter","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/bubble-boy-sendromu-ve-david-vetter\/","title":{"rendered":"Bubble Boy Sendromu ve David Vetter"},"content":{"rendered":"\n

David Vetter<\/h2>\n\n\n\n

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David Vetter ve SCID<\/h3>\n\n\n\n

David Phillip Vetter 21 Eyl\u00fcl 1971 ABD Houston, Texas’ta do\u011fdu. Kendisi A\u011f\u0131r Kombine \u0130mm\u00fcn Yetmezlik’ten (SCID) muzdarip bir hastayd\u0131. SCID \u00e7ok say\u0131da genetik mutasyonun neden oldu\u011fu T ve B h\u00fccrelerinin bozulmu\u015f geli\u015fimi ile karakterize edilen nadir bir genetik hastal\u0131kt\u0131r. SCID hastalar\u0131 i\u00e7in di\u011fer insanlarda ciddi tehdit olu\u015fturmayacak enfeksiyonlar \u00f6l\u00fcmc\u00fcl olabilir. <\/p>\n\n\n\n

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https:\/\/flic.kr\/p\/2mAuBFm<\/a><\/figcaption><\/figure><\/div>\n\n\n

Vetter Ailesi ve SCID \u00d6yk\u00fcs\u00fc<\/h3>\n\n\n\n

Asl\u0131nda Vetter ailesinin ilk \u00e7ocuklar\u0131 David Joseph Vetter 1963’te do\u011fmu\u015f ancak SCID nedeniyle 7 ay sonra hayata veda etmi\u015ftir. Sonras\u0131nda doktorlar Vetter ailesine ileride sahip olabilecekleri erkek \u00e7ocuklar\u0131nda y\u00fczde 50 oran\u0131nda SCID g\u00f6r\u00fclme ihtimali oldu\u011funu bildirmi\u015ftir. O zamanlarda SCID i\u00e7in tek tedavi y\u00f6ntemi ba\u015far\u0131l\u0131 bir ilik nakli olana kadar tamamen hayattan izole bir ortamda tutulmakt\u0131r. Vetter ailesi ilk \u00e7ocuklar\u0131n\u0131n \u00f6l\u00fcm\u00fcnden sonra Katherine adl\u0131 sa\u011fl\u0131kl\u0131 bir k\u0131z \u00e7ocu\u011fu sahibi olmu\u015ftu. Bir s\u00fcre sonra ailenin annesi Caroll Ann Vetter as\u0131l kahraman\u0131m\u0131z olan erkek bir \u00e7ocu\u011fa gebe kalm\u0131\u015ft\u0131, yani David Phillip Vetter’a.<\/p>\n\n\n\n

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David Vetter’\u0131n Do\u011fumu ve Erken Ya\u015fam\u0131<\/h3>\n\n\n\n

David do\u011fduktan 2 dakika sonra kendisi i\u00e7in \u00f6zel olarak haz\u0131rlanm\u0131\u015f tamamen steril ve izole balon fanusun i\u00e7ine al\u0131nd\u0131. Asl\u0131nda bu balon David’in bundan sonraki ya\u015fam\u0131ndaki daimi evi olacakt\u0131. David’in ihtiyac\u0131 olan her \u015fey sterilize edildikten sonra bu balonun i\u00e7ine konuyordu. Su, yiyecek, giyecek ve i\u00e7ecekleri steril duruma getirilip balonun i\u00e7ine veriliyordu. E\u011fitimi ailesi ve Dr John Montgomery’nin de dahil oldu\u011fu bir ekip taraf\u0131ndan y\u00f6netiliyordu, e\u011fitim materyalleri de ayn\u0131 \u015fekilde sterilize edilip balonun i\u00e7ine konuyordu. David i\u00e7in balonun i\u00e7inde bir televizyon ve oyun odas\u0131 bile yap\u0131lm\u0131\u015ft\u0131. Hatta David sterilize kutsal suyla bu balonun i\u00e7inde vaftiz bile edilmi\u015fti. David’in do\u011fumundan 3 y\u0131l sonra ek bir balon ve nakil \u00fcnitesi de in\u015fa edildi. B\u00f6ylece David k\u0131z karde\u015fi ve arkada\u015flar\u0131yla birlikte zaman ge\u00e7irebiliyordu. David 6 ya\u015f\u0131ndayken David’in d\u0131\u015far\u0131da dola\u015fabilmesi i\u00e7in NASA taraf\u0131ndan astronotlar\u0131nkine benzer \u00f6zel bir giysi haz\u0131rland\u0131. B\u00f6ylece David balonundan 2,5 metre uzakl\u0131\u011fa gidebilmeye ba\u015flad\u0131. Bu \u015fekilde David’in normal bir \u00e7ocu\u011fun ya\u015fam\u0131na en yak\u0131n d\u00fczeyde bir hayat ya\u015famas\u0131 sa\u011flanmaya \u00e7al\u0131\u015f\u0131lm\u0131\u015ft\u0131. T\u00fcm d\u00fcnyas\u0131 bu balonun i\u00e7indeydi. E\u011fitimini, sosyal hayat\u0131n\u0131 ve \u00f6zel hayat\u0131n\u0131 bu balonun i\u00e7inde ge\u00e7iriyordu.<\/p>\n\n\n\n

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https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/7\/7e\/David_Vetter_and_John_R._Montgomery.JPG\/1019px-David_Vetter_and_John_R._Montgomery.JPG<\/a><\/figcaption><\/figure>\n\n\n\n
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https:\/\/upload.wikimedia.org\/wikipedia\/commons\/0\/0f\/David_Vetter%27s_spacesuit.jpg<\/a><\/figcaption><\/figure>\n\n\n\n
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https:\/\/flic.kr\/p\/2mAzdEL<\/a><\/figcaption><\/figure>\n<\/figure>\n\n\n\n

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David Vetter \u0130\u00e7in Tedavi \u00c7al\u0131\u015fmalar\u0131 ve \u00d6l\u00fcm\u00fc<\/h3>\n\n\n\n

Bu s\u0131rada tabi ki tedavi \u00e7al\u0131\u015fmalar\u0131 s\u00fcr\u00fcyordu. Ancak kemik ili\u011fi i\u00e7in uygun don\u00f6r bir t\u00fcrl\u00fc bulunamam\u0131\u015ft\u0131. David 12 ya\u015f\u0131ndayken k\u0131z karde\u015finden ilik nakli ald\u0131 ve bu s\u0131rada ilk kez izole ortam\u0131ndan \u00e7\u0131km\u0131\u015f oldu. Karde\u015finden ald\u0131\u011f\u0131 ili\u011fi v\u00fccudu reddetmedi. Ancak \u00fcz\u00fcc\u00fc bir \u015fekilde nakilden birka\u00e7 ay sonra David Vetter, Burkitt Lenfoma dolay\u0131s\u0131yla 22 \u015eubat 1984’te hayata g\u00f6zlerini yumdu. Otopsi yap\u0131ld\u0131\u011f\u0131nda k\u0131z karde\u015finden al\u0131nan kemik ili\u011finde nakil \u00f6ncesi belirlenemeyen Eppstein-Barr vir\u00fcs\u00fcne rastland\u0131. David Phillip Vetter 12 y\u0131ll\u0131k k\u0131sa hayat\u0131n\u0131 bu balonun i\u00e7inde ge\u00e7irdi ve literat\u00fcre Bubble Boy (Balon \u00c7ocuk \/ Fanus \u00c7ocuk) Sendromu gibi bir ifadenin girmesine neden oldu.<\/p>\n\n\n

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https:\/\/flic.kr\/p\/8rgDaP<\/a><\/figcaption><\/figure><\/div>\n\n\n

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SCID’nin G\u00fcn\u00fcm\u00fczdeki Durumu ve Tedavi Se\u00e7enekleri<\/h2>\n\n\n\n

Otozomal resesif SCID’nin en \u00e7ok bilinen formu T h\u00fccrelerinin hayatta kalmas\u0131 i\u00e7in gerekli olan ADA (adenozin deaminaz) enziminin eksik olmas\u0131d\u0131r. X kromozomuna ba\u011fl\u0131 mutasyonlar\u0131n neden oldu\u011fu SCID t\u00fcr\u00fc genelde erkek \u00e7ocuklar\u0131 etkiler, bu t\u00fcr \u00e7ocuklarda anormal b\u00fcy\u00fckl\u00fckte geli\u015fen beyaz kan h\u00fccreleri bulunur; bu \u00e7ocuklar\u0131n T h\u00fccreleri ve do\u011fal katil h\u00fccreleri d\u00fczeyi d\u00fc\u015f\u00fckt\u00fcr. ADA eksikli\u011fi olan \u00e7ocuklarda enzim replansman tedavisi ba\u015far\u0131l\u0131 sonu\u00e7 vermektedir. Hematopoetik k\u00f6k h\u00fccre nakli (ilik nakli) SCID i\u00e7in standart tedavi y\u00f6ntemidir. Yap\u0131lan ara\u015ft\u0131rmalar 3,5 ayl\u0131ktan \u00f6nce yap\u0131lan nakillerin daha etkili oldu\u011funu g\u00f6stermi\u015ftir. Yak\u0131n tarihlerde kemik ili\u011fi transplantasyonuna alternatif olarak olarak gen tedavi y\u00f6ntemleri \u00fczerinde durulmaktad\u0131r. Eksik genin viral vekt\u00f6rler arac\u0131l\u0131\u011f\u0131yla hematopoetik k\u00f6k h\u00fccrelere transd\u00fcksiyonu ADA ve X’e ba\u011fl\u0131 SCID’de denenmektedir. Ancak retrovir\u00fcs kullan\u0131larak yap\u0131lan gen tedavilerinin genellikle ba\u015far\u0131l\u0131 sonu\u00e7 vermelerine kar\u015f\u0131n birka\u00e7 y\u0131l sonra l\u00f6semiye yol a\u00e7abilece\u011fi ke\u015ffedildi. Bu t\u00fcr olaylardan sonra viral vekt\u00f6r modifiye edilerek onkojen \u00f6zelli\u011fi azaltmay\u0131 hedefleyen \u00e7al\u0131\u015fmalara a\u011f\u0131rl\u0131k verildi. Bir retrovir\u00fcs taraf\u0131ndan eksprese edildi\u011finde onkojenik olabilen gama c genini i\u00e7ermeyen ADA-SCID denemelerinde hen\u00fcz hi\u00e7bir l\u00f6semi vakas\u0131 g\u00f6r\u00fclmedi. 2019’da, X-SCID’li 8 \u00e7ocu\u011fun tedavisinde HIV vir\u00fcs\u00fcn\u00fcn de\u011fi\u015ftirilmi\u015f bir versiyonunu vekt\u00f6r olarak kullanan yeni bir y\u00f6ntem denendi; ayn\u0131 y\u00f6ntem 2021’de ADA-SCID’li 50 \u00e7ocuk \u00fczerinde de denendi ve 48 \u00e7ocuktan olumlu sonu\u00e7 al\u0131nd\u0131.<\/p>\n\n\n\n

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Kaynak\u00e7a:<\/h3>\n\n\n\n

https:\/\/en.wikipedia.org\/wiki\/Severe_combined_immunodeficiency<\/a><\/p>\n\n\n\n

Jean-Louis Touraine , Kamel Sanhadji, Rachel Sembeil \/ Gene therapy for human immunodeficiency virus infection in the humanized SCID mouse model PMID: 14689754<\/strong> 5 Aral\u0131k 2003<\/p>\n\n\n\n

https:\/\/primaryimmune.org\/story-david-vetter<\/a><\/p>\n\n\n\n

https:\/\/www.niaid.nih.gov\/diseases-conditions\/severe-combined-immunodeficiency-scid<\/a><\/p>\n\n\n\n

https:\/\/en.wikipedia.org\/wiki\/David_Vetter<\/a><\/p>\n\n\n\n

https:\/\/www.bbc.com\/news\/world-us-canada-47969367<\/a><\/p>\n\n\n\n

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<\/p>\n","protected":false},"excerpt":{"rendered":"

David Vetter David Vetter ve SCID David Phillip Vetter 21 Eyl\u00fcl 1971 ABD Houston, Texas’ta do\u011fdu. Kendisi A\u011f\u0131r Kombine \u0130mm\u00fcn<\/p>\n","protected":false},"author":1139,"featured_media":11667,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1,2173],"tags":[2209,2208,1114,1115,2207,149,115,2206,1122,84,66],"acf":[],"views":574,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/11625"}],"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\/1139"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=11625"}],"version-history":[{"count":18,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/11625\/revisions"}],"predecessor-version":[{"id":11743,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/11625\/revisions\/11743"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/11667"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=11625"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=11625"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=11625"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}