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

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Uçar Ş

Zorlu P

Arık E

Yaralı N

Yayımlanma Tarihi

1 Eylül 2008

Gönderilme Tarihi

1 Eylül 2008

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2008 Cilt: 47 Sayı: 3

IZ

https://izlik.org/JA43RG53UA

Kaynak Göster

RIS / Bibtex

Vancouver

1.Uçar Ş, Zorlu P, Arık E, Yaralı N. Gaucher hastalığı ve demir eksikliği anemisi. ETD [Internet]. 01 Eylül 2008;47(3):197-200. Erişim adresi: https://izlik.org/JA43RG53UA

Gaucher hastalığı ve demir eksikliği anemisi

Gaucher disease and iron deficiency anemia

Abstract

Keywords