Abstract:

Lysosomal storage disorders (LSD) are caused by structural or functional abnormalities of lysosomes resulting in defective hydrolases, causing failure to degrade the corresponding substrates, which leads to abnormal multi-organ and multi-system function. There are a variety of LSD, the clinical manifestations are not characteristic and overall prognosis are poor. The current available treatment methods include enzyme replacement therapy, gene therapy and allogeneic hematopoietic stem cell transplantation. Allo-HSCT is currently an effective modality for the treatment of pediatric patients with LSD, especially unrelated cord blood, which is the optimal graft source for the treatment of LSD. The younger the age of transplantation, the greater the benefit. Therefore, early transplantation at a definite diagnosis is emphasized and recommend before the onset of obvious symptoms. Most of the domestic institution choose the myeloablative conditioning as the conditioning regimen.

Key words: lysosomal storage disorders, allogeneic hematopoietic stem cell transplantation, cord blood stem cell, child