{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T06:31:56Z","timestamp":1777185116920,"version":"3.51.4"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T00:00:00Z","timestamp":1656547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>There is limited information regarding hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis (MPS) IV and VI. This study examined the full donor chimerism, specific lysosomal enzyme levels, and the survival of different MPS children after HSCT from various donor sources and compared the prognosis. A total of 42 children with MPS underwent HSCT, 9 cases were type I, 14 were type II, 15 were type IV, and 4 were type VI. A total of 24 patients received peripheral blood stem cells (PBSC) and 18 patients received umbilical cord blood (UCB). Patients who received PBSC were conditioned with intravenous (IV) busulfan every 6 h for a total of 16 doses, IV cyclophosphamide (CY, 200 mg\/kg), and antihuman thymocyte globulin (ATG, 10 mg\/kg). While conditioning regimen of patients who received UCB was adjusted to ATG (preposed, pre-) + busulfan + fludarabine + Cy, which includes IV ATG (pre-, 6 mg\/kg), IV busulfan every 6 h for a total of 16 doses, IV fludarabine (200 mg\/m<jats:sup>2<\/jats:sup>) and CY (200 mg\/kg). Also, 95.2% (40 of 42) of patients achieved full donor chimerism, and all patients\u2019 specific lysosomal enzyme levels reached normal. The estimated overall survival (OS) at 1 year was 92.9%. There was no significant difference in 1-year OS between patients who received PBSC transplantation and those who received UCB grafts (87.5% vs. 100%, <jats:italic>p<\/jats:italic> = 0.0247). The incidence of acute and chronic GVHD did not differ between them. The incidences of pneumonia in PBSC recipients and UCB recipients were 45.8 and 33.3%, respectively, but there few patients suffering from respiratory failure (4.2 and 5.6%, respectively) due to pneumonia. The incidence of cytomegaloviremia was also high in both groups, 58.3 and 44.4% respectively, However, no patient developed CMV disease. All deaths (3 of 42) occurred in patients receiving PBSC grafts, and there was no death in patients receiving UCB grafts. There was no death after transplantation in patients with MPS IV and VI. In addition, respiratory and nervous system functions were improved, whereas valvular heart disease was improved in some patients but progressed in more patients after transplantation. In summary, HSCT is a good therapeutic option for MPS, not only for patients with MPS I or II but also for those with MPS IV or VI. The specific lysosomal enzyme levels can be completely restored to normal, which is the basis for patients to resolve a broad range of clinical outcomes. Moreover, UCB with suitable HLA (HLA-match above 7\/10 and 4\/6) is a suitable donor source for MPS. Patients who underwent UCB transplantation using the conditioning regimen ATG (pre-) + busulfan + fludarabine + Cy can achieve a higher proportion of full donor chimerism and survival with less severe complications. HSCT can improve organs function in patients with MPS, but it is still worth exploring.<\/jats:p>","DOI":"10.3389\/fped.2022.877735","type":"journal-article","created":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T07:00:26Z","timestamp":1656572426000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":15,"title":["The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis"],"prefix":"10.3389","volume":"10","author":[{"given":"Yuhua","family":"Qu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Likun","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shushan","family":"Nie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjiao","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sha","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/jcpt.12136","article-title":"Current and potential therapeutic strategies for mucopolysaccharidoses.","volume":"39","author":"Noh","year":"2014","journal-title":"J Clin Pharm Ther."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/j.bbmt.2017.06.020","article-title":"Hematopoietic stem cell transplantation for patients with Mucopolysaccharidosis II.","volume":"23","author":"Kubaski","year":"2017","journal-title":"Biol Blood Marrow Transplant."},{"key":"B3","doi-asserted-by":"publisher","first-page":"e226","DOI":"10.1016\/j.bbmt.2019.02.012","article-title":"Hematopoietic stem cell transplantation for mucopolysaccharidoses: past, present, and future.","volume":"25","author":"Taylor","year":"2019","journal-title":"Biol Blood Marrow Transplant."},{"key":"B4","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/j.bbmt.2008.01.009","article-title":"The clinical outcome of Hurler syndrome after stem cell transplantation.","volume":"14","author":"Aldenhoven","year":"2008","journal-title":"Biol Blood Marrow Transplant."},{"key":"B5","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1080\/21678707.2017.1296761","article-title":"Presentation and treatments for Mucopolysaccharidosis type II (MPS II. Hunter Syndrome).","volume":"5","author":"Stapleton","year":"2017","journal-title":"Expert Opin Orphan Drugs."},{"key":"B6","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/s10545-016-0006-2","article-title":"Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year university of Minnesota experience.","volume":"40","author":"Rodgers","year":"2017","journal-title":"J Inherit Metab Dis."},{"key":"B7","first-page":"235","article-title":"Mucopolysaccharidosis type IVA: clinical features, biochemistry, diagnosis, genetics and treatment","author":"Tomatsu","year":"2018","journal-title":"Mucopolysaccharidoses Update"},{"key":"B8","doi-asserted-by":"publisher","first-page":"2104","DOI":"10.1016\/j.bbmt.2016.08.015","article-title":"Allogeneic hematopoietic stem cell transplantation in thirty-four pediatric cases of mucopolysaccharidosis-a ten-year report from the china children transplant group.","volume":"22","author":"Wang","year":"2016","journal-title":"Biol Blood Marrow Transplant."},{"key":"B9","doi-asserted-by":"publisher","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","article-title":"Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.","volume":"125","author":"Aldenhoven","year":"2015","journal-title":"Blood."},{"key":"B10","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/s0140-6736(81)91046-1","article-title":"Reversal of clinical features of Hurler\u2019s disease and biochemical improvement after treatment by bone-marrow transplantation.","volume":"2","author":"Hobbs","year":"1981","journal-title":"Lancet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.ymgmr.2017.05.010","article-title":"Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: a 7 years follow-up molecular genetics and metabolism reports.","volume":"12","author":"Barth","year":"2017","journal-title":"Mol Genet Metab Rep."},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1111\/petr.13278","article-title":"Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: a case report.","volume":"22","author":"Sisinni","year":"2018","journal-title":"Pediatr Transplant."},{"key":"B13","doi-asserted-by":"publisher","first-page":"3981","DOI":"10.1182\/blood-2012-09-455238","article-title":"Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning.","volume":"121","author":"Jaap","year":"2013","journal-title":"Blood."},{"key":"B14","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.ymgme.2010.09.010","article-title":"Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI.","volume":"102","author":"Turbeville","year":"2011","journal-title":"Mol Genet Metab."},{"key":"B15","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1038\/bmt.2017.5","article-title":"Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome.","volume":"52","author":"Lum","year":"2017","journal-title":"Bone Marrow Transplant."},{"key":"B16","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1055\/s-0036-1584602","article-title":"Neurodevelopmental outcome after hematopoietic cell transplantation in inborn errors of metabolism: current considerations and future perspectives.","volume":"47","author":"Boelens","year":"2016","journal-title":"Neuropediatrics."},{"key":"B17","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1038\/sj.bmt.1705718","article-title":"Outcomes of hematopoietic stem cell transplantation for Hurler\u2019s syndrome in Europe: a risk factor analysis for graft failure.","volume":"40","author":"Boelens","year":"2007","journal-title":"Bone Marrow Transplant."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1106","DOI":"10.1016\/j.bbmt.2015.02.011","article-title":"Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.","volume":"21","author":"Aldenhoven","year":"2015","journal-title":"Biol Blood Marrow Transplant."},{"key":"B19","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.2147\/DDDT.S68562","article-title":"Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with morquio a syndrome.","volume":"9","author":"Tomatsu","year":"2015","journal-title":"Drug Des Devel Ther."},{"key":"B20","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.ymgmr.2013.11.002","article-title":"Long-term therapeutic efficacy of allogeneic bone marrow transplantation in a patient with mucopolysaccharidosis IVA.","volume":"1","author":"Chinen","year":"2014","journal-title":"Mol Genet Metab Rep."},{"key":"B21","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ymgme.2015.09.011","article-title":"Hematopoietic stem cell transplantation for morquio a syndrome.","volume":"117","author":"Yabe","year":"2016","journal-title":"Mol Genet Metab."},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1074-9","article-title":"Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.","volume":"14","author":"Akyol","year":"2019","journal-title":"Orphanet J Rare Dis."},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1080-y","article-title":"Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.","volume":"14","author":"Akyol","year":"2019","journal-title":"Orphanet J Rare Dis."},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21041517","article-title":"Mucopolysaccharidosis IVA: diagnosis, treatment, and management.","volume":"21","author":"Sawamoto","year":"2020","journal-title":"Int J Mol Sci."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.877735\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T07:00:31Z","timestamp":1656572431000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.877735\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,30]]},"references-count":24,"alternative-id":["10.3389\/fped.2022.877735"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.877735","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,30]]},"article-number":"877735"}}