Wang Jianmin, Chen Jing, Luo Changying, Zhang Huiwen, Gu Xuefan, Zhang Weimin
Department of Hematological and Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1489-1495. doi: 10.3760/cma.j.cn511374-20220429-00298.
To explore the long-term efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in patients with Mucopolysaccharidosis (MPS), which has rarely been reported in China.
A 18-month-old boy and a 23-month-old girl undergoing alloHSCT for MPS VI and MPS IH Shanghai Children's Medical Center on March 30, 2006 and September 6, 2006 were selected as the study subjects. A busulfan-based myeloablative regimen was used as the conditioning regimen. Peripheral stem cells were respectively collected from a human leucocyte antigen (HLA) matched sibling carrier donor and a HLA 9/10 matched unrelated donor. Both patients were followed up for more than 15 years. The functions of internal organs before and after the transplantation were compared, and child 1 was also compared with his untreated brother and healthy brother.
Both children have achieved full donor chimerism after the transplantation, and their enzymatic activities have remained stable. The enzymatic activity of the child 1 was slightly lower than normal but similar to that of his carrier donor, whilst that of the child 2 was normal. Both children have attended schools with good academic performance. Compared with his untreated brother, the respiratory function and hearing of child 1 have significantly improved. However, his orthopedic and cardiac disorders have still remained and required medical intervention. For child 2, her obstructive pulmonary disease was resolved and cognitive development was well preserved after the HSCT. Her heart disease has become stabilized and even improved with time, though her corneal clouding and skeletal malformation still required surgery.
MPS patients can sustain long-term and stable enzymatic activities after successful alloHSCT. Compared with untreated patients, their health can be significantly improved, along with considerably prolonged survival, though the long-term efficacy of HSCT for different organs may vary to a certain extent.
探讨异基因造血干细胞移植（alloHSCT）治疗黏多糖贮积症（MPS）的长期疗效，此类研究在国内鲜有报道。
选取2006年3月30日和2006年9月6日在上海儿童医学中心接受alloHSCT治疗MPS VI和MPS IH的一名18个月大男孩和一名23个月大女孩作为研究对象。采用以白消安为主的清髓方案作为预处理方案。外周血干细胞分别采集自人类白细胞抗原（HLA）匹配的同胞携带者供体和HLA 9/10匹配的无关供体。两名患者均随访超过15年。比较移植前后内脏器官功能，对患儿1还将其与未治疗的兄弟及健康兄弟进行比较。
两名患儿移植后均实现完全供体嵌合，酶活性保持稳定。患儿1的酶活性略低于正常水平，但与携带者供体相似，而患儿2的酶活性正常。两名患儿均已入学，学业成绩良好。与未治疗的兄弟相比，患儿1的呼吸功能和听力有显著改善。然而，他的骨科和心脏疾病仍然存在，需要医疗干预。对于患儿2，HSCT后她的阻塞性肺病得到缓解，认知发育良好。她的心脏病已趋于稳定，甚至随时间有所改善，不过她的角膜混浊和骨骼畸形仍需手术治疗。
MPS患者成功进行alloHSCT后可维持长期稳定的酶活性。与未治疗的患者相比，他们的健康状况可得到显著改善，生存期也显著延长，尽管HSCT对不同器官的长期疗效可能在一定程度上有所差异。
