Author/Authors :
Çağlıyan, Gülsüm Akgün İzmir Bozyaka Eğitim ve Araştırma Hastanesi - Hematoloji Kliniği, Turkey , Bilgir, Oktay İzmir Bozyaka Eğitim ve Araştırma Hastanesi - Hematoloji Kliniği, Turkey
Title Of Article :
A case of gaucher disease diagnosed at adult age
Abstract :
Gaucher disease is characterized by the deposit of glucosylceramide in the spleen, liver and bone marrow. This lipid lysosomal storage disease shows autosomal recessive inheritance and. Glucosylceramide is stored in lysosomal bodies of the cells of the reticuloendothelial system as a result of a genetic defect in glucosylceramide hydrolase (b-glucosidase). Massive splenomegaly and cytopenias are seen in Gaucher disease. We presented a 37-year-old woman admitted to our hospital with cytopenias and splenomegaly and diagnosed as Gaucher disease in adult age
NaturalLanguageKeyword :
Gaucher , cytopenia , splenomegaly
JournalTitle :
Ege Journal Of Medicine
