Familyal Hemofagositik Lenfohistiozisli Bir Olguda Yeni Birleşik Heterozigot Stxbp 2 Mutasyonu

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

A Novel Compound Heterozygous STxBP2 Mutation in a Case with Familial Hemophagocytic Lymphohistiocytosis

Öz

Familial or primary hemophagocytic lymphohistiocytosis (FHLH) is a rare genetic disease with autosomal recessive inheritance. FHLH is usually diagnosed during infancy and it is characterized by fever, hepatosplenomegaly, pancytopenia and less often involvement of the central nervous system. One of the diagnostic criteria is demonstrating a previously known mutation. Known gene mutations related to FHLH are perforin (PRF1; FHLH 2), UNC13D (FHLH 3), syntaxin 11 (STX11; FHLH 4), syntaxin-binding protein 2 (STXBP2; FHLH 5) and unknown gene mutations localized on chromosome 9q21.3-q22 (FHLH 1). The STXBP-2 (FHLH 5) mutation is a poor prognosis HLH type frequently seen in infants after gastroenteritis. We detected a novel compound heterozygous STXBP2 mutation in a six-month-old infant presenting with acute hepatitis and meeting the HLH diagnostic criteria and who developed reactivation with diarrhea and CNS involvement findings after the HLH 2004 treatment protocol was used

Anahtar Kelimeler

• Familial hemophagocytosis, Infants, STXBP2 Arginine 235Proline, STXBP2 İzoleucine19 Threonine

Kaynakça

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