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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.
Keywords
Details
Primary Language
Turkish
Subjects
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Journal Section
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Authors
Gülsüm Akgün Çağlıyan
Oktay Bilgir
Publication Date
December 1, 2015
Submission Date
December 1, 2015
Acceptance Date
-
Published in Issue
Year 1970 Volume: 54 Number: 4
Vancouver
1.Gülsüm Akgün Çağlıyan, Oktay Bilgir. Erişkin yaşta tanı alan Gaucher hastalıklı bir olgu. EJM. 2015 Dec. 1;54(4):196-8. doi:10.19161/etd.344162
Cited By
Gaucher Disease Diagnosed During Adolescence
Pediatric Academic Case Reports
https://doi.org/10.61107/pacr.2023.042