Gaucher hastalığı ve demir eksikliği anemisi

Uçar Ş; Zorlu P; Arık E; Yaralı N

EN TR

Gaucher disease and iron deficiency anemia

Abstract

Gaucher disease is an uncommon autosomal genetic disorder characterized by the deposit of glucosylceramide in the cells of the spleen, liver, and bone marrow. The disease shows autosomal recessive inheritance and classified as a lipid lysosomal storage disease. Glucosylceramide is stored in the lysosomal bodies of the cells of the reticuloendothelial system as a result of a genetic error in glucosylceramide-hydrolase (β-glucosidase) production and most often causes marked splenomegaly, hematological disorders, and bone abnormalities. We presented a 1-year-old boy who admitted to our hospital with ıron deficiency anemia and hepatosplenomegaly and diagnosed as Gaucher disease and reported due to its rarity.

Keywords

Gaucher disease,; Glucosylceramidase; Reticuloendothelial System; Anemia; Iron-Defıciency

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Uçar Ş

Zorlu P

Arık E

Yaralı N

Publication Date

September 1, 2008

Submission Date

September 1, 2008

Acceptance Date

-

Published in Issue

Year 2008 Volume: 47 Number: 3

IZ

https://izlik.org/JA43RG53UA

Cite

RIS / Bibtex

Vancouver

1.Uçar Ş, Zorlu P, Arık E, Yaralı N. Gaucher hastalığı ve demir eksikliği anemisi. EJM [Internet]. 2008 Sep. 1;47(3):197-200. Available from: https://izlik.org/JA43RG53UA

Gaucher disease and iron deficiency anemia

Gaucher disease and iron deficiency anemia

Abstract

Keywords