AI Summary & Key Takeaways
AI InsightWe present two cases with Gaucher disease type 1, one of whom also had cirrhosis.
📌 3 Key Takeaways
Abstract
Gaucher's disease is an autosomal recessive glycolipid storage disorder caused by mutations in the beta glucocerebrosidase gene. This defect leads to reduced enzyme activity with accumulation of glucocerebroside in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher's disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component. Type I is the more common subtype. Common presenting features include hepatosplenomegaly, anemia, thrombocytopenia, and often bone pains. We present two cases with Gaucher disease type 1, one of whom also had cirrhosis.
Özet
Gaucher hastalığı beta glukoserobrozidaz genindeki mutasyon sonucunda gelişen, otozomal resesif kalıtımla geçen, lipit depo hastalığıdır. Mutasyon sonucunda enzim aktivitesindeki azalma sonucunda retikuloendotelial sistemde makrofajlarda glukoserobrozid birikimi olur. Nörolojik komponenti olup (tip 2 ve 3) olmamasına (tip 1) göre klinik üç subtipi vardır. Hastalar sıklıkla hepatosplenomegali, anemi, trombositopeni ve kemik ağrıları vardır. Biz birinde siroz gelişmiş iki tip 1 Gaucher hastasını sunduk.