Konjenital nötropeni: İki vaka sunumu

Yıl 2022, Cilt: 15 Sayı: (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı, 28 - 31, 30.06.2022

Banu İnce Durhan

Öz

Ağır konjenital nötropeni (AKN) yaşamın ilk haftalarında ortaya çıkan ve bebeklik döneminden itibaren yaşamı tehdit eden bakteriyel enfeksiyonlar ile karakterize, mutlak nötrofil sayısının(MNS) <500 mm3 olduğu primer immün yetmezlik hastalığıdır. Otozomal dominant, otozomal resesif, X’e bağlı resesif kalıtım gösterir ancak sporadik mutasyonlar da olabilmektedir. AKN görülme insidansı yaklaşık 1-2/1.000.000’dir. Kemik iliğinde promiyelosit/miyelosit evresinde matürasyonda duraklama tipik bulgudur. Elane, Hax1, WAS, G6PC3, GF11, JAGN1, CSF3R gibi genlerdeki mutasyonlar hastalığa neden olur. AKN’nin prototipi Kostmann Sendromu’dur (AKN tip 3).

Anahtar Kelimeler

Konjenital , nötropeni , vaka

Kaynakça

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