Erişkin yaşta tanı alan Gaucher hastalıklı bir olgu

Gaucher hastalığı, dalak karaciğer ve kemik iliğinde glukozilseramid birikimi ile karakterizedir. Hastalık otozomal resesif geçer ve lizozomal lipid depo hastalığıdır. Glukozilseramid hidrolaz (b-glukozidaz)da genetik defekt sonucu retikuloendoteliyal sistem hücrelerinin lizozomlarda glukoseramid birikir. Gaucher hastalığında masif splenomegali ve sitopeniler görülür. 37 yaşında sitopeniler ve hepatosplenomegali nedeniyle hastanemize başvuran ve erişkin yaşta Gaucher hastalığı tanısı alan olgu sunuldu.

A case of gaucher disease diagnosed at adult age

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.

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