Long-term outcome of hematopoietic stem cell transplantation in two children with mucopolysaccharidosis
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目的 报告异基因造血干细胞移植(alloHSCT)治疗黏多糖贮积症(MPS)的长期结果国内罕见报告，探索alloHSCT治疗MPS的远期疗效。 方法 1例MPS VI型重型和1例MPS I型重型患儿均在2006年于上海儿童医学中心进行了alloHSCT。移植时年龄为18月和23月，均采用以白舒菲为基础的清髓性预处理方案。外周血造血干细胞分别来自人类白细胞抗原(HLA)全相合同胞供体(致病基因携带者)和HLA 9/10相合无关供体。患儿随访时间均超过15年。除对患儿移植前后器官功能进行对比外，例1亦与患病哥哥、健康异卵双胎胞兄进行了对比。 结果 移植后均获得完全植入，患儿体内酶活性持续保持稳定，其中例1酶活性与携带者同胞供者相似，略低于正常，例2酶活性正常。两位患儿均能正常就学，成绩良好。与未接受治疗的患病哥哥相比，例1的呼吸功能和听力明显改善，但和健康哥哥相比，骨骼与心脏仍有残留症状需要进行医学干预。身高较未治疗哥哥仅120 cm有所改善，最终达到了140 cm,但与健康胞兄182 cm相比，仍有较明显的落后。例2呼吸、智力有明显改善，心脏随着时间的推移亦逐步趋于稳定和改善，但仍残留有角膜云翳和骨骼症状需要进行手术治疗，终身高149 cm。 结论 成功的alloHSCT能使MPS患者获得持久稳定的酶活性，相较于未移植患者，其健康状况明显改善，生存期得以明显延长。早期诊断早期治疗可获最佳治疗效果。不同器官的远期疗效存在一定的差异。 Objective 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. Methods 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. Results 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. Conclusion 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.
Objective 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. Methods 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. Results 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. Conclusion 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.
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