Öz

Konjenital glikozilasyon bozuklukları ( CDG ) glikanların sentezinde ve diğer bileşiklere bağlanmasında defektlerin neden olduğu geniş bir genetik hastalıklar grubudur. İlk hastaların tanımlandığı 1980 yılından beri 40 tip CDG ( protein ve lipid glikozilasyon defektlerini kapsayan ) keşfedilmiştir. Konjenital glikozilasyon bozuklukları; esasen karaciğer-bağırsak hastalığı olan CDG-1b hariç tüm sistemleri özellikle de santral sinir sistemini etkiler.Açıklanamayan nörolojik bulguları ( psikomotor retardasyon, hipotoni, hiporefleksi, serebellar hipoplazi, konvülziyon ), hipoglisemisi, kolestazisi, karaciğer işlev bozuklukları, koagulopatisi, büyüme geriliği, görme bozuklukları ve iskelet tutulumu olan hastalarda konjenital glikozilasyon bozuklukları ayırıcı tanıda akla getirilmelidir.Burada, hipotonisi, psikomotor geriliği, büyüme geriliği, fasial dismorfisi, karaciğer tutulumu, iskelet bulguları ve hipoglisemisi olan ve izoelektrik odaklamada sialotransferrinleri tip 2 şekli gösteren kız hastamızı sunuyoruz.

Anahtar Kelimeler: Konjenital glikozilasyon bozuklukları, tip II, infant

Referanslar

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Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Özaydın E, Yalçın F, Gündüz M, Köse G. Konjenital Glikozilasyon Bozukluğu Tip II. Turk J Pediatr Dis [Internet]. 2012 Dec. 1 [cited 2025 May 25];6(1):47-53. Available from: https://turkjpediatrdis.org/article/view/171