BİR OLGU NEDENİYLE GAUCHER HASTALIĞININ GÖZDEN GEÇİRİLMESİ

Abstract

Gaucher hastalığı, retiküloendotelyal sistem hücreleri içinde glukozilseramid birikiminin neden olduğu, lizozomal gluko-serobrosidaz enzim eksikliğine bağlı otosomal resesif geçişli bir depo hastalığıdır. Enzim ve gen tedavilerindeki ilerlemeler ile küratif tedavisi gündeme gelen, ender bir genetik bozukluk olan Gaucher hastalığı, kliniğimizde saptanan bu olgu ile birlikte yeniden gözden geçirilmiştir.

Anahtar Kelimeler: Gaucher Hücreleri,Depo Hastalığı,Enzim Tedavisi

Keywords

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