ADVANCES IN HEMATOLOGY Current Developments in the Management of Hematologic Disorders

摘要

DH Gaucher disease is a rare, genetic, lysosomal storage disorder. In patients with this disease, the lysosomal en2yme glucocerebrosidase is missing or reduced in activity, which results in accumulation of the substrate glucosylcermide. This accumulation causes disruptions in various cells and organs, particularly the macrophages, resulting in enlargement of the liver and spleen, reductions in blood counts because of infiltration in the bone marrow, and problems with the bones themselves. More rarely, patients develop malignancies, such as multiple myeloma.