Öz

Familyal veya primer hemofagositik lenfohistiositozis (FHLH) nadir görülen otozomal resesif geçişli genetik bir hastalıktır. FHLH genellikle infant döneminde tanı almakta, ateş, hepatosplenomegali, pansitopeni ve daha az sıklıkta santral sinir sistemi tutulumu ile karakterizedir. Hastalığın kesin tanısı hastalığa neden olan mutasyonun gösterilmesi ile konur. FHLH ile ilgili bilinen genetik mutasyonlar; perforin (PRF1; FHLH 2), UNC13D (FHLH 3), syntaxin 11 (STX11; FHLH 4), syntaxinbinding protein 2 (STXBP2; FHLH 5) ve bilinmeyen 9q21.3-q22 (FHLH 1) kromozomunda lokalize gen mutasyonlarıdır. STXBP2 (FHLH 5) mutasyonu infant döneminde sıklıkla gastroenterit sonrası görülen genellikle kötü seyirli bir HLH tipidir. Biz de kliniğimize akut hepatit tablosu ile başvuran ve HLH tanı kriterlerini sağlayan, HLH 2004 tedavi protokolü sonrası ishal ve SSS tutulum bulguları ile nüks izlenen altı aylık bir infantı yeni birleşik heterozigot STXBP2 mutasyonu saptanması nedeniyle sunduk.

Anahtar Kelimeler: Familyal hemofagositozis, İnfant, STXBP2 Arginin 235Prolin, STXBP2 İzolosin19 Treonin

Referanslar

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Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Bahadır A, Erduran E. Familyal Hemofagositik Lenfohistiozisli Bir Olguda Yeni Birleşik Heterozigot Stxbp 2 Mutasyonu. Turk J Pediatr Dis [Internet]. 2017 Aug. 1 [cited 2025 May 25];11(3):206-8. Available from: https://turkjpediatrdis.org/article/view/447