Kayseri’de 7 \u00e7ocuk, nadir hastal\u0131klar aras\u0131nda yer alan ve d\u00fcnyada yakla\u015f\u0131k 200 ki\u015fide g\u00f6r\u00fclen Tangier hastal\u0131\u011f\u0131 tan\u0131s\u0131yla Erciyes \u00dcniversitesi (ER\u00dc) T\u0131p Fak\u00fcltesindeki \u00e7al\u0131\u015fmalarla literat\u00fcre girdi.<\/p>\n\n\n\n
ER\u00dc T\u0131p Fak\u00fcltesi \u00c7ocuk N\u00f6roloji Bilim Dal\u0131 \u00d6\u011fretim \u00dcyesi Prof. Dr. H\u00fcseyin Per, 2 binde 1’den daha az g\u00f6r\u00fclen hastal\u0131klar\u0131n nadir hastal\u0131k olarak tan\u0131mland\u0131\u011f\u0131n\u0131 s\u00f6yledi.
D\u00fcnyada yakla\u015f\u0131k 350 milyon ki\u015finin bu t\u00fcr hastal\u0131klarla m\u00fccadele etti\u011fini anlatan Per, T\u00fcrkiye’de ise 6-7 milyon insan\u0131n nadir hastal\u0131k tan\u0131s\u0131 ald\u0131\u011f\u0131n\u0131 belirtti.
Per, nadir hastal\u0131klar\u0131n \u00f6zellikle \u00e7ocuklar\u0131 etkiledi\u011fine dikkati \u00e7ekerek, hastalar\u0131n y\u00fczde 50’sinin \u00e7ocuklardan olu\u015ftu\u011funu dile getirdi.
Bu hastal\u0131klarda tan\u0131 konulup tedaviye erken ba\u015flaman\u0131n \u00f6nemine i\u015faret eden Per, “\u00d6zellikle topuk tarama ve a\u015f\u0131lama konusunda bir\u00e7ok \u00fclkeden daha ileri durumday\u0131z. Topuk taramas\u0131yla pek \u00e7ok hastal\u0131\u011fa tan\u0131 koyuyoruz. Bu hastal\u0131klara tan\u0131 konulduktan sonra tedavi s\u00fcrecinde \u00e7ok iyi \u015feyler yap\u0131l\u0131yor. Zeka \u00f6z\u00fcrl\u00fcl\u00fc\u011f\u00fc, y\u00fcr\u00fcme ya da n\u00f6rolojik bozukluklar\u0131n\u0131 engellemi\u015f oluyoruz.” diye konu\u015ftu.<\/p>\n\n\n\n
KAYSER\u0130’DE 7 \u00c7OCU\u011eA TANI KONULDU
Per, nadir hastal\u0131klar aras\u0131nda yer alan Tangier hastal\u0131\u011f\u0131n\u0131n “ABCA1” denilen bir gende ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131, d\u00fcnyada yakla\u015f\u0131k 200 civar\u0131nda vaka bulundu\u011funu anlatt\u0131.
Hastal\u0131\u011f\u0131n d\u00fcnya genelinde Japonya’da daha fazla g\u00f6r\u00fcld\u00fc\u011f\u00fcne i\u015faret eden Per, 1600’l\u00fc y\u0131llarda hastal\u0131ktan bahsedildi\u011fini ancak 1960’l\u0131 y\u0131llarda vaka bildirimi yap\u0131ld\u0131\u011f\u0131n\u0131 kaydetti.
T\u00fcrkiye’de bu hastal\u0131kla m\u00fccadele eden 20 ki\u015finin bulundu\u011funu bildiren Per, ER\u00dc T\u0131p Fak\u00fcltesine gelen ilk vakan\u0131n bir k\u0131z \u00e7ocu\u011fu oldu\u011funu, ailesinin y\u00fcr\u00fcmede zorluk ve a\u011fr\u0131 \u015fikayetiyle kendilerine ba\u015fvurdu\u011funu belirtti.
Ara\u015ft\u0131rmalar\u0131n ve genetik \u00e7al\u0131\u015fmalar\u0131n sonucunda \u00e7ocukta Tangier hastal\u0131\u011f\u0131n\u0131 tespit ettiklerini ve 2014’te bu \u00e7al\u0131\u015fmay\u0131 yay\u0131mlad\u0131klar\u0131n\u0131 belirten Per, daha sonra doktor Selcan \u00d6zt\u00fcrk ile metabolizma, genetik ve \u00e7ocuk n\u00f6rolojideki di\u011fer doktorlarca ailenin tarand\u0131\u011f\u0131n\u0131, 6 vaka daha bulundu\u011funu s\u00f6yledi.
Bu vakalara ili\u015fkin \u00e7al\u0131\u015fmay\u0131 da 2025’te “Journal of Pediatric Endocrinology and Metabolism” dergisinde yay\u0131mlad\u0131klar\u0131n\u0131 anlatan Per, “Olduk\u00e7a nadir bir hastal\u0131k. Bu hastal\u0131k ilk bulgusunu tonsillerin (bademcik) portakal rengi olmas\u0131yla g\u00f6steriyor. Daha ileriki ya\u015flarda dalak b\u00fcy\u00fcmesine gidebiliyor. \u0130yi kolesterol dedi\u011fimiz HDL kolesterol\u00fcn d\u00fc\u015f\u00fckl\u00fc\u011f\u00fcyle tan\u0131 al\u0131yor.” dedi.<\/p>\n\n\n\n
HASTALI\u011eA Y\u00d6NEL\u0130K BEL\u0130RG\u0130N B\u0130R \u0130LA\u00c7 TEDAV\u0130S\u0130 YOK”
Per, ilk gelen hastaya bademcik ameliyat\u0131 yap\u0131ld\u0131\u011f\u0131 i\u00e7in sar\u0131 ve turuncu rengi g\u00f6rmediklerini belirterek, hastan\u0131n y\u00fcr\u00fcme g\u00fc\u00e7l\u00fc\u011f\u00fc nedeniyle kendilerine ba\u015fvurdu\u011funu kaydetti.
Daha sonra 5-6 ya\u015flar\u0131ndaki kuzeninin de yine eklemlerinde, kemiklerinde a\u011fr\u0131 \u015fikayetiyle ba\u015fvurdu\u011funu anlatan Per, bu hastal\u0131\u011f\u0131n nadir hastal\u0131klar i\u00e7inde bile “ender-i nadirat” olarak de\u011ferlendirildi\u011fini vurgulad\u0131.
Tangier tan\u0131s\u0131 konulan ki\u015filerin kalp hastal\u0131klar\u0131 y\u00f6n\u00fcnden takip edilmesi gerekti\u011fini vurgulayan Per, “\u00d6zellikle damar sertli\u011fi a\u00e7\u0131s\u0131ndan takip etmek, ritim bozukluklar\u0131 a\u00e7\u0131s\u0131ndan bakmak gerekir. Bu hastalar\u0131n besin a\u00e7\u0131s\u0131ndan de\u011ferlendirilmesi, iyi bir diyet takibi yap\u0131lmas\u0131 gerekiyor. \u015eimdilik bu hastal\u0131\u011fa y\u00f6nelik belirgin bir ila\u00e7 tedavisi yok. Biz aileyi tarad\u0131ktan sonra di\u011fer vakalar\u0131m\u0131zla toplam 7 vaka bildirdik, literat\u00fcre katk\u0131da bulunduk” ifadelerini kulland\u0131.
Per, \u00f6zellikle akraba evlili\u011finin fazla olmas\u0131n\u0131n vaka say\u0131s\u0131n\u0131 etkiledi\u011fine dikkati \u00e7ekerek, tespit ettikleri vakalarda da akraba evlili\u011fi g\u00f6zlemlediklerini, ailede gen\u00e7 ya\u015fta kalp \u00f6l\u00fcmlerine rastlad\u0131klar\u0131n\u0131 dile getirdi.
Nadir hastal\u0131klarla m\u00fccadele eden ailelerin hem hastal\u0131\u011f\u0131n etkileri hem de ekonomik y\u00fck\u00fcyle m\u00fccadele etti\u011fini vurgulayan Per, bu konuda \u00fclkelerin sa\u011fl\u0131k y\u00f6neticileri ve ila\u00e7 firmalar\u0131n\u0131n ortak \u00e7\u00f6z\u00fcm bulmas\u0131 gerekti\u011fini s\u00f6zlerine ekledi.<\/p>\n\n\n\n