The status of hematopoietic stem cell transplantation in lysosomal storage disease

摘要: Lysosomal storage diseases are a group of disorders which have in common an inherited defect lysosomal function-in most cases, missing intralysosomal enzyme. Research into potential treatment options for this has focused on enzyme replacement. Over the past two decades, hematopoietic stem cell transplantation been used with increasing frequency to treat patients disease by providing population cells capacity produce The success marrow depends specific deficiency and stage disease. Generally, visceral symptoms can be improved, whereas skeletal lesions remain relatively unaffected. effect neurologic varies. Hematopoietic remains viable option those where data supportive stabilization or amelioration known. Early is goal so that replacement may occur before extensive central nervous system injury becomes evident. When inadequate clinical available, decision perform requires experimental demonstrating question both excreted from normal taken up affected as evidenced elimination material vitro.