<\/p>\n
Marmara \u00dcniversitesi (M\u00dc) Pendik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi \u00c7ocuk \u0130mm\u00fcnolojisi ve Alerji Hastal\u0131klar\u0131 Bilim Dal\u0131 Ba\u015fkan\u0131 Prof. Dr. Ahmet O\u011fuzhan \u00d6zen, genetik k\u00f6kenli ba\u011f\u0131\u015f\u0131kl\u0131k sistemi hastal\u0131klar\u0131na y\u00f6nelik \u00e7al\u0131\u015fmalar\u0131 ve “CHAPLE Sendromu”nun tan\u0131s\u0131n\u0131 koyup, tedavisini bularak d\u00fcnya t\u0131p literat\u00fcr\u00fcne kazand\u0131rmas\u0131 dolay\u0131s\u0131yla Avrupa \u0130mm\u00fcnoloji Dernekleri Federasyonu (EFIS) taraf\u0131ndan \u00f6d\u00fcle lay\u0131k g\u00f6r\u00fcld\u00fc. <\/p>\n
EFIS taraf\u0131ndan yenilik\u00e7i, alan\u0131nda \u00f6nc\u00fc, bilimi ileri ta\u015f\u0131yan ara\u015ft\u0131rmac\u0131lar\u0131n \u00f6d\u00fcllendirilmesi ve projelerinin y\u00fcr\u00fct\u00fclmesine maddi destek sa\u011flanmas\u0131 amac\u0131yla d\u00fczenlenen ve Avrupa’daki farkl\u0131 \u00fclkelerden \u00e7ok say\u0131da bilim insan\u0131n\u0131n ba\u015fvurdu\u011fu “Eastern Star Award (Do\u011fu Y\u0131ld\u0131z\u0131 \u00d6d\u00fcl\u00fc)” sahiplerini buldu. <\/p>\n
M\u00dc Pendik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi \u00c7ocuk \u0130mm\u00fcnolojisi ve Alerji Hastal\u0131klar\u0131 Bilim Dal\u0131 Ba\u015fkan\u0131 Prof. Dr. Ahmet O\u011fuzhan \u00d6zen de genetik k\u00f6kenli ba\u011f\u0131\u015f\u0131kl\u0131k sistemi hastal\u0131klar\u0131na y\u00f6nelik yapt\u0131\u011f\u0131 \u00e7al\u0131\u015fmalar ve bu kapsamda CHAPLE Sendromu’nun 2017’de tan\u0131s\u0131n\u0131 koyup, 2021’de tedavisini bularak d\u00fcnya t\u0131p literat\u00fcr\u00fcne kazand\u0131rmas\u0131 dolay\u0131s\u0131yla bu \u00f6d\u00fcle lay\u0131k g\u00f6r\u00fcld\u00fc. <\/p>\n
Prof. Dr. \u00d6zen, AA muhabirine yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, “bir ba\u011f\u0131\u015f\u0131kl\u0131k sistemi kusuru” olarak tan\u0131mlad\u0131\u011f\u0131 CHAPLE Sendromu’nun y\u00fczde, g\u00f6zlerde, ellerde, ayaklarda \u00f6dem yani \u015fi\u015flik bulgular\u0131yla seyretti\u011fini, bunun yan\u0131 s\u0131ra kar\u0131n a\u011fr\u0131s\u0131, ishal, kusma, b\u00fcy\u00fcme gerili\u011fi, s\u0131k hastal\u0131k ge\u00e7irme nedeniyle hastane yat\u0131\u015flar\u0131 ve derin p\u0131ht\u0131la\u015fma problemlerinin de bulgular aras\u0131nda oldu\u011funu belirtti.<\/p>\n
Bu kapsamda ilk hastay\u0131 2013’te g\u00f6rd\u00fc\u011f\u00fcn\u00fc aktaran \u00d6zen, “\u0130lk ba\u015flarda bunun neden kaynakl\u0131 oldu\u011funu bilemiyorduk. (Hastalar) S\u00fcrekli hastalanan, \u00f6demleri olan, ishalleri, kusmalar\u0131 olan bir durumdayd\u0131. ‘Genom incelemeleri’ dedi\u011fimiz ayr\u0131nt\u0131l\u0131 genetik incelemeler ger\u00e7ekle\u015ftirdik ve sonras\u0131nda literat\u00fcre ge\u00e7en bir hastal\u0131k tan\u0131mlam\u0131\u015f olduk.” bilgisini verdi. <\/p>\n
Prof. Dr. Ahmet O\u011fuzhan \u00d6zen, “1 numaral\u0131 hasta” olarak literat\u00fcre ge\u00e7en hastan\u0131n, t\u00fcm ke\u015fif ve tedavi s\u00fcrecinin M\u00dc Pendik E\u011fitim ve Ara\u015ft\u0131rma Hastanesinde ger\u00e7ekle\u015fti\u011fini anlatarak, hastal\u0131\u011f\u0131n neden kaynakl\u0131 oldu\u011funu anlamaya dair yapt\u0131klar\u0131 \u00e7al\u0131\u015fmalar ve y\u0131ll\u0131k incelemeler sonras\u0131nda bunun tedavi edilebilir bir sendrom oldu\u011funu g\u00f6rd\u00fcklerini dile getirdi. <\/p>\n
Geli\u015ftirdikleri tedavinin de ilk defa hastalarla bu hastanede bulu\u015ftu\u011fundan bahseden \u00d6zen, s\u00f6zlerini \u015f\u00f6yle s\u00fcrd\u00fcrd\u00fc:<\/p>\n
“Daha \u00f6nce ba\u011f\u0131\u015f\u0131kl\u0131k sistemi kusurlar\u0131n\u0131n b\u00f6yle bir genetikle yani b\u00f6yle bir hastal\u0131kla ili\u015fkili oldu\u011fu bildirilmemi\u015fti. Bu anlamda \u00f6nemli bir ke\u015fif yapm\u0131\u015f olduk. Hastal\u0131\u011f\u0131n ismini yine biz verdik ve ‘CHAPLE’ hastal\u0131\u011f\u0131 olarak t\u0131p literat\u00fcr\u00fcne ge\u00e7ti. Gerek ilk \u00f6nc\u00fc ke\u015fif makalemiz, gerek sonraki tedaviye dair \u00e7abalar\u0131m\u0131z \u00e7ok \u00f6nemli. \u00c7ok y\u00fcksek prestijli t\u0131p dergilerinde y\u00fcksek yank\u0131 buldu. Uluslararas\u0131 haber ajanslar\u0131nca haber yap\u0131ld\u0131. En son \u015fubat ay\u0131nda ilac\u0131n\u0131n geli\u015ftirildi\u011fine dair makalemiz de The Lancet dergisinde yay\u0131nland\u0131. Avrupa \u0130mm\u00fcnololoji Dernekleri Federasyonu taraf\u0131ndan t\u00fcm bu s\u00fcre\u00e7lere y\u00f6nelik olarak ‘Eastern Star Award’ isimli \u00f6d\u00fcle lay\u0131k g\u00f6r\u00fcld\u00fcm.”<\/p>\n
\u00d6zen, ABD men\u015feili bir ila\u00e7 firmas\u0131yla 2019’dan itibaren ortak \u00e7al\u0131\u015fma ba\u015flatt\u0131klar\u0131n\u0131 ve bu projenin t\u00fcm s\u00fcre\u00e7lerinin hastanelerinde ger\u00e7ekle\u015ftirildi\u011fini aktard\u0131. <\/p>\n
\u00d6l\u00fcmc\u00fcl olabilen ve aile facialar\u0131 ile neticelenebilen bu hastal\u0131\u011fa kar\u015f\u0131, hastalar\u0131 tam ba\u015far\u0131l\u0131 ve tam etkin fonksiyonel bireyler haline getirebilen bir tedavi geli\u015ftirdiklerini belirten \u00d6zen, “Hastalar daha dakikalar i\u00e7erisinde ilk dozunu al\u0131rken belirgin fayda g\u00f6rd\u00fcklerini ifade etmekteler. Daha \u00f6nce oyun oynayamayan, ko\u015famayan, okula gidemeyen \u00e7ocuklar, okula giden bireyler, topluma fayda sa\u011flayan bireyler haline gelebiliyorlar. Kal\u0131c\u0131 olarak hastal\u0131\u011f\u0131n b\u00fct\u00fcn bulgular\u0131n\u0131 d\u00fczeltebiliyoruz. Bunlar \u00e7ok \u00f6nemli geli\u015fmeler.” dedi. <\/p>\n
Prof. Dr. \u00d6zen, tedavinin global a\u00e7\u0131dan da b\u00fcy\u00fck \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131na dikkati \u00e7ekerek, “Art\u0131k d\u00fcnyan\u0131n herhangi bir co\u011frafyas\u0131nda hasta bir \u00e7ocuk varsa bunlar\u0131n kal\u0131c\u0131 \u015fekilde tedavi olabilece\u011fi anlam\u0131na geliyor. \u0130leride bu geli\u015ftirilmi\u015f olan tedaviler ba\u015fka nadir hastal\u0131klarda hatta daha yayg\u0131n hastal\u0131klarda da kullan\u0131ma girme potansiyeline sahip. Bunun i\u00e7in de ara\u015ft\u0131rmalar s\u00fcr\u00fcyor.” de\u011ferlendirmesini yapt\u0131. <\/p>\n
Bu hastal\u0131kla 20 y\u0131ld\u0131r m\u00fccadele eden 45 ya\u015f\u0131ndaki Hatice Halil ile ayn\u0131 rahats\u0131zl\u0131\u011fa sahip 6,5 ya\u015f\u0131ndaki k\u0131z\u0131 Lara Halil de hastanede Prof. Dr. Ahmet O\u011fuzhan \u00d6zen ve ekibince tedavi alt\u0131na al\u0131nd\u0131. <\/p>\n
Anne Hatice Halil, daha \u00f6nce bir\u00e7ok hastaneye ba\u015fvurduklar\u0131n\u0131, haftan\u0131n 3 g\u00fcn\u00fc acil servise gitmek zorunda kald\u0131\u011f\u0131n\u0131 ve \u00e7ok zorlu bir s\u00fcre\u00e7 ya\u015fad\u0131klar\u0131n\u0131 dile getirdi. <\/p>\n
Prof. Dr. \u00d6zen ile tan\u0131\u015ft\u0131ktan sonra kendisine ve k\u0131z\u0131na CHAPLE Sendromu tan\u0131s\u0131 konuldu\u011funu aktaran Halil, tedaviye ba\u015fland\u0131\u011f\u0131n\u0131 ve \u015fu anda \u00e7ok iyi bir durumda olduklar\u0131n\u0131 ifade etti. <\/p>\n
Ge\u00e7mi\u015fte 7 \u00e7ocu\u011funu CHAPLE hastal\u0131\u011f\u0131ndan dolay\u0131 kaybetti\u011fini anlatan Halil, “Hepsi 3 ya da 5 ya\u015f\u0131na geldiklerine vefat ettiler, hi\u00e7birini kurtaramad\u0131k. Bu tedaviye ba\u015flad\u0131ktan sonra hem benim hem de k\u0131z\u0131m\u0131n hayat\u0131 de\u011fi\u015fti. Ben \u00f6lm\u00fc\u015f gibiydim ve bu tedaviden sonra tekrar ya\u015famaya ba\u015flad\u0131m.” \u015feklinde konu\u015ftu. <\/p>\n