Gaucher hastalığı ve demir eksikliği anemisi

Gaucher hastalığı, dalak, karaciğer ve kemik iliği hücrelerinde glukozilseramid birikimi ile karakterize, yaygın olmayan genetik bir bozukluktur. Bu hastalık, otozomal resesif olarak geçer ve lizozomal lipid depo hastalığı olarak sınıflandırılır. Glukozilseramid-hidrolaz (β-glukozidaz)‘ da genetik hatanın sonucu olarak retiküloendotelyal sistem hücrelerinin lizozomlarında glukozilseramid birikir ve belirgin splenomegali, hematolojik bozukluklar ve kemik iliği anormalliklerine neden olur. Demir eksikliği anemisi ve hepatosplenomegali yakınmalarıyla hastanemize başvuran ve Gaucher hastalığı tanısı alan bir yaşındaki erkek hasta, nadir görülen bir hastalık olması nedeniyle sunuldu.

Gaucher disease and iron deficiency anemia

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.

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