title: Allogeneic CD34 selected peripheral stem cell transplant for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): rapid haemopoietic and biochemical reconstitution.
abstract: Severe Maroteaux-Lamy syndrome is usually fatal in teenage or early adult life. Until recently, allogeneic bone marrow transplantation was the only form of enzyme replacement. We report the first successful transplant using CD34 selected, mobilised allogeneic blood cells for an inborn error of metabolism. A busulphan, cyclophosphamide, melphalan and antithymocyte globulin conditioning regimen was used as myeloablative therapy. Allogeneic CD34 selected granulocyte colony-stimulating factor (G-CSF)-mobilised blood cells from a HLA-identical sibling were used for the transplant. Haemopoietic reconstitution occurred on day 10 post-transplant with normal N-acetylgalactosamine-4-sulphatase levels. Infectious and graft-versus-host disease (GVHD) complications were minimal. We suggest that CD34 selected, mobilised allogeneic blood cells are a safe form of enzyme replacement therapy in Maroteaux-Lamy syndrome and should be considered in other metabolic diseases where the benefits of haemopoietic transplantation are proven.
authors.affiliation: Department of Clinical Oncology/Haematology, Women's and Children's Hospital, North Adelaide, SA, Australia.
authors.forename: F
authors.initials: F
authors.lastname: Alvaro
authors.forename: I
authors.initials: I
authors.lastname: Toogood
authors.forename: J M
authors.initials: JM
authors.lastname: Fletcher
authors.forename: P
authors.initials: P
authors.lastname: Clements
authors.forename: T
authors.initials: T
authors.lastname: Rawling
authors.forename: B
authors.initials: B
authors.lastname: To
mesh_terms: D000293:Adolescent; D000328:Adult; D000402:Airway Obstruction / Q000209:etiology / Q000628:therapy; D018952:Antigens, CD34 / Q000378:metabolism; D002469:Cell Separation; D002648:Child; D002803:Chondro-4-Sulfatase / Q000378:metabolism; D006085:Graft Survival; D006410:Hematopoiesis; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000150:complications / Q000201:enzymology / Q000628:therapy*; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous
chemical_list: D018952:Antigens, CD34; D002803:Chondro-4-Sulfatase