Gaucher hastalığı; iki olgu

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.