title: Hematopoietic stem cell transplantation for Morquio A syndrome.
abstract: Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described. We conducted HSCT for 4 cases with Morquio A (age at HSCT: 4-15years, mean 10.5years) and followed them at least 10years (range 11-28years; mean 19years). Current age ranged between 25 and 36years of age (mean 29.5years). All cases had a successful full engraftment of allogeneic bone marrow transplantation without serious GVHD. Transplanted bone marrow derived from HLA-identical siblings (three cases) or HLA-identical unrelated donor. The levels of the enzyme activity in the recipient's lymphocytes reached the levels of donors' enzyme activities within two years after HSCT. For the successive over 10years post-BMT, GALNS activity in lymphocytes was maintained at the same level as the donors. Except one case who had osteotomy in both legs one year later post BMT, other three cases had no orthopedic surgical intervention. All cases remained ambulatory, and three of them could walk over 400m. Activity of daily living (ADL) in patients with HSCT was better than untreated patients. The patient who underwent HSCT at four years of age showed the best ADL score. In conclusion, the long-term study of HSCT has demonstrated therapeutic effect in amelioration of progression of the disease in respiratory function, ADL, and biochemical findings, suggesting that HSCT is a therapeutic option for patients with Morquio A.
authors.affiliation: Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan. Electronic address: yabeh@is.icc.u-tokai.ac.jp.
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan. Electronic address: akemi-chan@med.osaka-cu.ac.jp.
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Japan. Electronic address: ychinen@med.u-ryukyu.ac.jp.
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.affiliation: Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Shunichi
authors.initials: S
authors.lastname: Kato
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Sawamoto
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
authors.forename: Eriko
authors.initials: E
authors.lastname: Yasuda
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Shintaku
authors.affiliation: Medical Education Development Center, Gifu University, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics, Gifu University, Gifu, Japan.
authors.forename: Tadao
authors.initials: T
authors.lastname: Orii
authors.affiliation: Department of Pediatrics, Gifu University, Gifu, Japan; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States. Electronic address: stomatsu@nemours.org.
authors.forename: Shunji
authors.initials: S
authors.lastname: Tomatsu
mesh_terms: D000203:Activities of Daily Living; D000328:Adult; D001827:Body Height; D016026:Bone Marrow Transplantation; D005260:Female; D006086:Graft vs Host Disease; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000628:therapy*; D016896:Treatment Outcome
keywords: ADL; GVHD; Hematopoietic stem cell transplantation; Morquio A syndrome; Respiratory function