<\/p>\n
Bilkent \u015eehir Hastanesi \u00c7ocuk Hastanesi, \u00c7ocuk \u0130mm\u00fcnoloji ve Alerji Hastal\u0131klar\u0131 \u00d6\u011fretim \u00dcyesi Do\u00e7. Dr. Bet\u00fcl Karaatmaca, AA muhabirine yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, primer imm\u00fcn yetmezli\u011fin a\u011f\u0131rl\u0131kl\u0131 olarak bebekler ve \u00e7ocuklarda g\u00f6r\u00fclen nadir hastal\u0131klar aras\u0131nda yer ald\u0131\u011f\u0131n\u0131 s\u00f6yledi.<\/p>\n
Hastal\u0131\u011f\u0131n bazen \u00e7ocuklarda ilerleyen ya\u015flarda veya yeti\u015fkinlik d\u00f6neminde de ortaya \u00e7\u0131kabildi\u011fini anlatan Karaatmaca, “Medyada da bilinen ismiyle ‘balon \u00e7ocuk’ hastal\u0131\u011f\u0131 (a\u011f\u0131r kombine imm\u00fcn yetmezlik), primer imm\u00fcn yetmezli\u011fin en a\u011f\u0131r formu olan, ilk 1 ya\u015fta bulgu veren a\u011f\u0131r kombine imm\u00fcn yetmezliktir. Hastal\u0131kta \u00f6zellikle 1 ya\u015f alt\u0131nda tekrarlayan a\u011f\u0131r, f\u0131rsat\u00e7\u0131 enfeksiyonlar, b\u00fcy\u00fcme, geli\u015fme gerilikleri ile kar\u015f\u0131la\u015f\u0131yoruz.” ifadesini kulland\u0131.<\/p>\n
Do\u00e7. Dr. Karaatmaca, kal\u0131tsal ba\u011f\u0131\u015f\u0131kl\u0131k sistemi yetersizli\u011fine neden olan en \u00f6nemli risklere ili\u015fkin, “Akraba evlili\u011fi ya da ailede imm\u00fcn yetmezlik nedeniyle kaybedilen bebek, \u00e7ocuk \u00f6l\u00fcm\u00fc olmas\u0131 bize bu hastal\u0131\u011f\u0131 d\u00fc\u015f\u00fcnd\u00fcren, uyaran en \u00f6nemli bulgular.” bilgisini payla\u015ft\u0131.<\/p>\n
Rahats\u0131zl\u0131\u011f\u0131n ge\u00e7mi\u015fte ABD’de a\u011f\u0131r kombine imm\u00fcn yetmezlik ya\u015fayan, do\u011fumunun 2’nci dakikas\u0131nda \u00f6zel steril ortama al\u0131n\u0131p b\u00fcy\u00fct\u00fclen bir bebe\u011fin durumundan hareketle “balon \u00e7ocuk” hastal\u0131\u011f\u0131 olarak an\u0131ld\u0131\u011f\u0131n\u0131 dile getiren Karaatmaca, s\u00f6zlerini \u015f\u00f6yle s\u00fcrd\u00fcrd\u00fc:<\/p>\n
“Bu rahats\u0131zl\u0131kla do\u011fan bir bebek, ba\u015flang\u0131\u00e7ta sa\u011fl\u0131kl\u0131 g\u00f6r\u00fcn\u00fcmde olabiliyor. Anneden ge\u00e7en baz\u0131 antikorlar bebe\u011fi bir miktar koruyor ancak takip eden aylarda bebe\u011fin ba\u011f\u0131\u015f\u0131kl\u0131k h\u00fccreleri azal\u0131yor ve enfeksiyonlara kar\u015f\u0131 savunmas\u0131z hale geliyor. En ufak bir durumdan h\u0131zl\u0131ca enfeksiyon kapabiliyor, a\u011f\u0131zda ge\u00e7meyen pamuk\u00e7uklar olabiliyor. Bu bebekler iyi beslenemedi\u011fi, s\u0131k enfeksiyon ge\u00e7irdi\u011fi, kronik ishal durumlar\u0131 ya\u015fad\u0131\u011f\u0131 i\u00e7in b\u00fcy\u00fcme ve geli\u015fme gerili\u011fi ortaya \u00e7\u0131k\u0131yor.”<\/p>\n
Hastalarda erken tan\u0131 ve tedavinin \u00f6nemine vurgu yapan Karaatmaca, “Bebeklerin erken tan\u0131yla, etkin tedavisine ba\u015flanamazsa maalesef 1 ya\u015f civar\u0131nda kaybediliyorlar. Bu noktada hekimlerimizin hastal\u0131kla ilgili fark\u0131ndal\u0131\u011f\u0131n\u0131 art\u0131rmak \u00e7ok \u00f6nemli. \u00c7\u00fcnk\u00fc bu bebekler \u00f6ncelikli ilk basamak sa\u011fl\u0131k kurulu\u015flar\u0131nda g\u00f6r\u00fcl\u00fcyorlar ve bazen imm\u00fcnoloji merkezlerine y\u00f6nlendirilmeleri zaman alabiliyor.” diye konu\u015ftu.<\/p>\n
Do\u00e7. Dr. Bet\u00fcl Karaatmaca, kemik ili\u011fi nakliyle hastal\u0131\u011f\u0131n kesin tedavisinin m\u00fcmk\u00fcn oldu\u011funu belirterek \u015f\u00f6yle devam etti:<\/p>\n
“E\u011fer kemik ili\u011fi erken d\u00f6nemde yap\u0131l\u0131rsa hastal\u0131\u011f\u0131n tedavisinde y\u00fczde 95’lere varan ba\u015far\u0131 oran\u0131 sa\u011fl\u0131yor. Bu sayede hastalar\u0131m\u0131z, tamamen sa\u011fl\u0131kl\u0131 bir ya\u015fam imkan\u0131na kavu\u015fuyor. Bu genetik ge\u00e7i\u015fli bir hastal\u0131k oldu\u011fu i\u00e7in tekrarlama riski de bulunuyor. O y\u00fczden aileleri bilgilendirmemiz, uyarmam\u0131z, fark\u0131ndal\u0131k \u00e7al\u0131\u015fmalar\u0131yla akraba evlili\u011fi oranlar\u0131n\u0131n azalt\u0131lmas\u0131 \u00f6nemli.”<\/p>\n
\u00c7ocuk \u0130mm\u00fcnoloji ve Alerji Hastal\u0131klar\u0131 Klini\u011finin referans bir merkez oldu\u011funu, T\u00fcrkiye’nin d\u00f6rt bir yan\u0131ndan hastalara tedavi imkan\u0131n\u0131n sunuldu\u011funu vurgulayan Karaatmaca, bebeklerinde hastal\u0131k belirtileri g\u00f6ren, akraba evlili\u011fi bulunan ve bu hastal\u0131ktan daha \u00f6nce bebeklerini kaybeden ailelerin mutlaka \u00e7ocuk imm\u00fcnoloji kliniklerine ba\u015fvurmalar\u0131 gerekti\u011finin alt\u0131n\u0131 \u00e7izdi.<\/p>\n
Karaatmaca, hastal\u0131\u011f\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131na ili\u015fkin de \u015funlar\u0131 kaydetti:<\/p>\n
“Primer imm\u00fcn yetmezlik, ABD’deki verilere g\u00f6re 100 binde 1 oranda g\u00f6r\u00fcl\u00fcyor. Ancak orada ba\u015flat\u0131lan yenido\u011fan taramalar\u0131yla beraber, akraba evlili\u011fi yayg\u0131n olmamas\u0131na kar\u015f\u0131n, 50 binde 1 s\u0131kl\u0131\u011fa kadar oldu\u011fu g\u00f6r\u00fcld\u00fc. \u00dclkemizde kesin veri olmamakla birlikte pilot yenido\u011fan \u00e7al\u0131\u015fmalar\u0131n\u0131n verisine g\u00f6re, 10 binde 1 gibi bir g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 s\u00f6z konusu. \u00dclkemizde akraba evlili\u011finin daha fazla olmas\u0131, hastal\u0131\u011f\u0131n daha s\u0131k g\u00f6r\u00fclme riskini de art\u0131r\u0131yor.”<\/p>\n
\u00c7ocuk Hastanesi Ba\u015fhekimi Prof. Dr. Nam\u0131k Ya\u015far \u00d6zbek de nadir hastal\u0131klar\u0131n giderek \u00f6nem kazanan bir konu oldu\u011funa dikkati \u00e7ekerek, d\u00fcnyada s\u0131k g\u00f6r\u00fclen hastal\u0131klar\u0131n tedavisinin b\u00fcy\u00fck oranda \u00e7\u00f6z\u00fcld\u00fc\u011f\u00fcn\u00fc ancak nadir hastal\u0131klar i\u00e7in hen\u00fcz bu durumun s\u00f6z konusu olmad\u0131\u011f\u0131n\u0131 s\u00f6yledi.<\/p>\n
Prof. Dr. \u00d6zbek, “Nadir hastal\u0131klar \u00fclkemiz a\u00e7\u0131s\u0131ndan \u00e7ok \u00f6nemli bir konu. T\u00fcrkiye n\u00fcfusunun yakla\u015f\u0131k 25 milyonunu \u00e7ocuklar olu\u015fturuyor. Akraba evlili\u011finin s\u0131k olmas\u0131, g\u00f6\u00e7 gibi durumlar\u0131n etkisiyle \u00e7ocuklar\u0131m\u0131zda nadir hastal\u0131klar\u0131 da daha s\u0131k g\u00f6r\u00fcyoruz.” dedi.<\/p>\n
Bilkent \u015eehir Hastanesinde Nadir Hastal\u0131klar G\u00fcn\u00fc kapsam\u0131nda sa\u011fl\u0131k \u00e7al\u0131\u015fanlar\u0131na y\u00f6nelik uzmanlar\u0131n kat\u0131l\u0131m\u0131yla bilgilendirme toplant\u0131s\u0131 d\u00fczenlediklerini ve bu y\u0131lki temalar\u0131n\u0131n primer imm\u00fcn yetmezlikler olarak belirlendi\u011fini aktaran \u00d6zbek, \u015funlar\u0131 ifade etti:<\/p>\n
“T\u00fcrkiye’de yenido\u011fan taramalar\u0131 kapsam\u0131nda ara\u015ft\u0131r\u0131lan nadir hastal\u0131klar var ancak y\u00fczlerce nadir hastal\u0131k oldu\u011funu dikkate ald\u0131\u011f\u0131m\u0131zda bunlar\u0131n her birini taramak m\u00fcmk\u00fcn de\u011fil. Bu nedenle akraba evlili\u011finin azalt\u0131lmas\u0131 nadir hastal\u0131klar\u0131 \u00f6nlemek y\u00f6n\u00fcnden \u00e7ok b\u00fcy\u00fck bir ad\u0131m olacakt\u0131r.”<\/p>\n