{"id":6990,"date":"2023-06-10T11:20:06","date_gmt":"2023-06-10T11:20:06","guid":{"rendered":"https:\/\/kraios.app\/news\/saglik\/2023\/06\/10\/kalitsal-hastalik-fenilketonurinin-yuzde-75inden-akraba-evliligi-sorumlu\/"},"modified":"2023-06-10T11:20:06","modified_gmt":"2023-06-10T11:20:06","slug":"kalitsal-hastalik-fenilketonurinin-yuzde-75inden-akraba-evliligi-sorumlu","status":"publish","type":"post","link":"https:\/\/kraios.app\/news\/saglik\/2023\/06\/10\/kalitsal-hastalik-fenilketonurinin-yuzde-75inden-akraba-evliligi-sorumlu\/","title":{"rendered":"Kal\u0131tsal hastal\u0131k fenilketon\u00fcrinin y\u00fczde 75’inden akraba evlili\u011fi sorumlu"},"content":{"rendered":"

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Kal\u0131tsal bir hastal\u0131k olan ve tedavi edilmedi\u011finde zihinsel geli\u015fim bozuklu\u011funa yol a\u00e7abilen fenilketon\u00fcrinin (PKU) de aralar\u0131nda bulundu\u011fu metabolik hastal\u0131klar\u0131n y\u00fczde 75’inde anne baba aras\u0131ndaki akraba evlili\u011finin etken oldu\u011fu uyar\u0131s\u0131 yap\u0131ld\u0131.<\/p>\n

Ankara \u00dcniversitesi (A\u00dc) T\u0131p Fak\u00fcltesi \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 Hastal\u0131klar\u0131 Anabilim Dal\u0131 \u00c7ocuk Metabolizma Hastal\u0131klar\u0131 Bilim Dal\u0131 Ba\u015fkan\u0131 Prof. Dr. Fatma Tu\u011fba Emino\u011flu, AA muhabirine yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, fenilketon\u00fcrinin kal\u0131tsal bir metabolik hastal\u0131k oldu\u011funu ve T\u00fcrkiye’de her y\u0131l 250 civar\u0131 bebe\u011fin beyin hasar\u0131na yol a\u00e7abilen bu hastal\u0131kla d\u00fcnyaya geldi\u011fini s\u00f6yledi.<\/p>\n

Akraba evlili\u011finin, fenilketon\u00fcri g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131n\u0131 art\u0131ran en \u00f6nemli etken oldu\u011funa dikkati \u00e7eken Emino\u011flu, “Verilere g\u00f6re, \u00fclkemizde akraba evlili\u011fi oran\u0131 y\u00fczde 22,5 oldu\u011fu d\u00fc\u015f\u00fcn\u00fcld\u00fc\u011f\u00fcnde, di\u011fer \u00fclkelere g\u00f6re g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 daha y\u00fcksek. Yine ta\u015f\u0131y\u0131c\u0131l\u0131k oran\u0131 da y\u00fcksek, buna g\u00f6re yakla\u015f\u0131k 20-25 ki\u015fiden biri hastal\u0131\u011f\u0131 ta\u015f\u0131yor. Bu da \u00f6nemli bir risk fakt\u00f6r\u00fc.” diye konu\u015ftu.<\/p>\n

\"\"<\/p>\n

Prof. Dr. Emino\u011flu, \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 Hastal\u0131klar\u0131 Anabilim Dal\u0131 \u00c7ocuk Metabolizma Hastal\u0131klar\u0131 Bilim Dal\u0131 b\u00fcnyesinde yap\u0131lan bilimsel ara\u015ft\u0131rma ile fenilketon\u00fcrinin de dahil oldu\u011fu metabolik hastal\u0131klar\u0131n geli\u015fiminde anne baba aras\u0131ndaki akraba evlilik oran\u0131n\u0131 incelediklerini s\u00f6yledi.<\/p>\n

Bilimsel ara\u015ft\u0131rman\u0131n hastal\u0131k geli\u015fiminde akraba evlili\u011finin en \u00f6nemli etken oldu\u011funu ortaya koydu\u011funu dile getiren Emino\u011flu, “Yap\u0131lan \u00e7al\u0131\u015fmada, fenilketon\u00fcrinin de yer ald\u0131\u011f\u0131 metabolik hastal\u0131klar\u0131n y\u00fczde 75’inde anne baba aras\u0131ndaki akraba evlili\u011finin oldu\u011fu belirlendi.” dedi.<\/p>\n

Aile \u00f6yk\u00fcs\u00fc olan ki\u015filerin mutlaka \u00e7ocuk sahibi olmadan \u00f6nce hekime ba\u015fvurmas\u0131 gerekti\u011fine i\u015faret eden Emino\u011flu, “Gebelik planlamas\u0131 yap\u0131lmadan \u00f6nce mutlaka hekimle ileti\u015fime ge\u00e7ilerek, genetik dan\u0131\u015fmanl\u0131k al\u0131nmas\u0131 laz\u0131m. Genetik dan\u0131\u015fmanl\u0131kla, aileleri bu hastal\u0131kla ilgili bilgilendiriyoruz ve gebelik planlamas\u0131 yap\u0131ld\u0131\u011f\u0131nda da t\u00fcp bebek y\u00f6ntemiyle sa\u011fl\u0131kl\u0131 \u00e7ocuk yap\u0131lmas\u0131 i\u00e7in y\u00f6nlendiriyoruz.” bilgisini verdi.<\/p>\n

\"\"<\/p>\n

“Bu hastal\u0131klara \u00f6zel haz\u0131rlanm\u0131\u015f \u00fcr\u00fcnleri t\u00fcketmeleri gerekiyor”<\/h3>\n

Fenilketon\u00fcri hastas\u0131 \u00e7ocuklar\u0131n, \u00f6m\u00fcr boyu d\u00fc\u015f\u00fck proteinli beslenme program\u0131na ba\u011fl\u0131 kalmas\u0131 gerekti\u011fini anlatan Emino\u011flu, bu ki\u015filerde et, s\u00fct, yumurta, baklagiller ve tah\u0131llardaki proteinlerin v\u00fccutta sindirilemedi\u011fini s\u00f6yledi.<\/p>\n

Emino\u011flu, “Hastan\u0131n bu besinleri t\u00fcketmesi halinde, \u00e7e\u015fitli dokularda \u00f6zellikle beyinde hasar geli\u015febiliyor. Tedavi gecikir ya da tan\u0131 konulmazsa hem zihinsel hem y\u00fcr\u00fcme ve konu\u015fma gibi motor fonksiyonlarda belirgin gerilik meydana geliyor. Bu nedenle erken tan\u0131 b\u00fcy\u00fck \u00f6nem ta\u015f\u0131yor.” uyar\u0131s\u0131nda bulundu.<\/p>\n

\"\"<\/p>\n

Emino\u011flu, “Bu ki\u015filer, a\u011f\u0131r bir vejetaryen diyet yapmak durumunda kal\u0131yor. Bunlar da meyve ve sebze a\u011f\u0131rl\u0131k oluyor. Ama bir \u00e7ocu\u011fun sadece meyve ve sebze ile geli\u015fmesi de m\u00fcmk\u00fcn de\u011fil. Bu nedenle zararl\u0131 olan aminoasidin \u00e7\u0131kar\u0131ld\u0131\u011f\u0131 \u00f6zel mamalar ve beraberinde d\u00fc\u015f\u00fck proteinli un, \u015fehriye, makarna gibi bu hastal\u0131klara \u00f6zel haz\u0131rlanm\u0131\u015f \u00fcr\u00fcnleri t\u00fcketmeleri gerekiyor.” diye konu\u015ftu.<\/p>\n

Diyetin d\u0131\u015f\u0131na \u00e7\u0131k\u0131lmas\u0131 halinde hastalarda dikkat da\u011f\u0131n\u0131kl\u0131\u011f\u0131, dalg\u0131nl\u0131k gibi ya\u015fam kalitesini bozan sorunlar\u0131n ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 aktaran Emino\u011flu, “E\u011fer bebeklik d\u00f6neminde ge\u00e7 tan\u0131 al\u0131nmas\u0131 durumunda ise a\u011f\u0131r zihinsel etkilenme s\u00f6z konusu ve beraberinde y\u00fcr\u00fcyememe ve konu\u015famama gibi a\u011f\u0131r bulgular ortaya \u00e7\u0131k\u0131yor.” bilgisini verdi.<\/p>\n

\"\"<\/p>\n

“K\u0131z\u0131m\u0131n doktor olmas\u0131n\u0131 hayal ediyorum”<\/h3>\n

Akraba evlili\u011fi yapan ve 4 \u00e7ocu\u011fundan ikisi fenilketon\u00fcri hastas\u0131 olan baba Murat Y\u0131ld\u0131z da 11 ya\u015f\u0131ndaki k\u0131z\u0131n\u0131n do\u011fumdan \u00fc\u00e7 ay sonra v\u00fccudunda d\u00f6k\u00fcnt\u00fcler ba\u015flad\u0131\u011f\u0131n\u0131 s\u00f6yledi.<\/p>\n

V\u00fccudundaki yaralar nedeniyle Kars’tan Ankara’ya gelerek hastaneye ba\u015fvurduklar\u0131n\u0131 aktaran Y\u0131ld\u0131z, “Yakla\u015f\u0131k \u00fc\u00e7 ay olmu\u015ftu, bu nedenle tan\u0131da biraz geciktik. Akraba evlili\u011finin b\u00f6yle bir etkisi olabilece\u011fini bilmiyorduk. Anne babalar\u0131m\u0131z amca \u00e7ocuklar\u0131.” dedi.<\/p>\n

Y\u0131ld\u0131z, hastal\u0131\u011f\u0131n ne gibi sonu\u00e7lar do\u011furaca\u011f\u0131n\u0131 \u00f6\u011frendiklerinde \u00e7ok \u00fcz\u00fcld\u00fcklerini belirterek, \u015funlar\u0131 s\u00f6yledi:<\/p>\n

“\u00c7ok \u00fcz\u00fcc\u00fc bir durum. K\u0131z\u0131m\u0131n durumunu anlatt\u0131\u011f\u0131m\u0131zda etraf\u0131m\u0131zda herkes ‘engelli olur, konu\u015famaz, y\u00fcr\u00fcyemez’ diyordu. Hocam\u0131z, tedaviye ba\u015flad\u0131, iki hafta sonra k\u0131z\u0131m\u0131z\u0131 g\u00f6rmeye geldi\u011fimizde adeta ba\u015fka bir \u00e7ocukla kar\u015f\u0131la\u015fm\u0131\u015ft\u0131k. \u00c7ocu\u011fumuz \u00e7ok geli\u015fmi\u015fti. K\u0131z\u0131m \u015fimdi 11 ya\u015f\u0131nda. Diyetine de ba\u011fl\u0131 kal\u0131yor. K\u0131z\u0131m\u0131n \u00fcniversitede okumas\u0131n\u0131 istiyorum, hatta doktor olmas\u0131n\u0131 hayal ediyorum. K\u0131z\u0131m da doktor olup \u00e7ocuklar\u0131 muayene edece\u011fini hayal ediyor.”<\/p>\n

\"\"<\/p>\n

Baba Y\u0131ld\u0131z, 2 ayl\u0131k olan en k\u00fc\u00e7\u00fck \u00e7ocu\u011funun da fenilketon\u00fcri hastas\u0131 oldu\u011funu ifade ederek, \u015funlar\u0131 kaydetti:<\/p>\n

“Doktorlar\u0131m\u0131z bize dan\u0131\u015fmanl\u0131k vermi\u015f ve gebelik durumunda onun da hasta olabilece\u011fini belirtmi\u015fti, uyarm\u0131\u015flard\u0131 bizi. Ama oldu i\u015fte, o da tedavi g\u00f6r\u00fcyor do\u011fumundan itibaren. \u0130kisi de hekim kontrol\u00fcnde ve sa\u011fl\u0131klar\u0131 gayet iyi. \u0130ki karde\u015f, ileride de birbirlerine destek olurlar.<\/p>\n

Buradan iki \u00e7ocu\u011fu tedavi g\u00f6ren baba olarak sesleniyorum, akraba evlili\u011fi yap\u0131lmamal\u0131, yap\u0131l\u0131yorsa da mutlaka dan\u0131\u015fmanl\u0131k al\u0131nmal\u0131. Aksi takdirde, bizim ya\u015fad\u0131klar\u0131m\u0131z\u0131 ya\u015fayabilirler. \u00c7ok zor d\u00f6nemler ya\u015fad\u0131k, yeri geliyor mamas\u0131n\u0131 yemiyor, bizim t\u00fcketti\u011fimiz g\u0131dalar\u0131 yiyemiyorlar. Bu, anne ve babay\u0131 \u00fcz\u00fcyor. O nedenle tedbirli olunmal\u0131. “<\/p>\n

A\u00dc b\u00fcnyesinde d\u00fczenlenen etkinlik kapsam\u0131nda, fenilketon\u00fcrili \u00e7ocuklar, beslenme ve diyet uzman\u0131 ile t\u00fcketebilecekleri d\u00fc\u015f\u00fck proteinli pizza, sucuk, orman meyveli i\u00e7ecek ve \u00e7ilekli muhallebi yapt\u0131.<\/p>\n


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