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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