title: Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
abstract: Severe Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is usually fatal by early adulthood. Bone marrow transplantation is the only form of definitive enzyme replacement therapy available. A 5-year-old boy with Maroteaux-Lamy syndrome has successful recovery of bone marrow and enzymatic functions after umbilical cord blood transplant from his unaffected HLA-identical brother. Busulphan (16 mg/kg) and cyclophosphamide (200 mg/kg) were used as preparative chemotherapy with short methotrexate and long cyclosporin as prophylaxis against graft-versus-host disease (GVHD). A total of 6.08 x 10(7)/kg nucleated cells and 2.92 x 10(5)/kg CD34+ cells were transplanted with neutrophil engraftment achieved on day 26. There was no evidence of acute and chronic GVHD. Fifteen months after transplant, a normal level of N-acetylgalactosamine-4-sulphatase activity was achieved despite mixed chimerism. There was clinical improvement of hepatosplenomegaly, facial and skin features, joint mobility and resolution of suppurative middle ear effusion. He returned to school and continued to perform well in academic studies. We report here the first successful umbilical cord blood transplant as treatment of Maroteaux-Lamy syndrome.
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, SAR.
authors.forename: V
authors.initials: V
authors.lastname: Lee
authors.forename: C K
authors.initials: CK
authors.lastname: Li
authors.forename: M M
authors.initials: MM
authors.lastname: Shing
authors.forename: K W
authors.initials: KW
authors.lastname: Chik
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: K S
authors.initials: KS
authors.lastname: Tsang
authors.forename: H
authors.initials: H
authors.lastname: Pong
authors.forename: K F
authors.initials: KF
authors.lastname: Huen
authors.forename: P M
authors.initials: PM
authors.lastname: Yuen
mesh_terms: D000328:Adult; D018952:Antigens, CD34 / Q000097:blood; D002478:Cells, Cultured; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005312:Fetal Blood; D005347:Fibroblasts / Q000201:enzymology; D006085:Graft Survival; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000628:therapy*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000097:blood; D009679:Nuclear Family; D018183:Transplantation Chimera / Q000097:blood
chemical_list: D018952:Antigens, CD34; D020051:N-Acetylgalactosamine-4-Sulfatase