异基因造血干细胞移植在溶酶体贮积症治疗中的应用

Advance in lysosomal storage disorders treated with allogeneic hematopoietic stem cell transplantation

溶酶体贮积症(LSD)是因溶酶体的结构或功能异常导致水解酶缺陷,引起相应底物不能降解,进而导致多器官、多系统功能异常。该疾病种类多样,临床表现复杂且缺乏特异性,总体预后较差。目前治疗可采用方法有酶替代治疗、基因治疗及异基因造血干细胞移植(allo-HSCT)等。异基因造血干细胞移植是当前治疗部分儿童LSD的有效方式,尤其是非亲缘脐血干细胞(UCBT),被认为是治疗LSD的优先移植物来源。移植时年龄越小,受益程度越大,因此强调明确诊断尽早移植,建议在明显症状出现前进行。国内大多采用清髓性预处理方案。

Lysosomal storage disorders(LSD)are caused by structural or functional abnormalities of lysosomes resulting in defective hydrolases,causing failure to degrade the corresponding substrates,which leads to abnormal multiorgan and multi-system function.There are a variety of LSD,the clinical manifestations are not characteristic and overall prognosis are poor.The current available treatment methods include enzyme replacement therapy,gene therapy and allogeneic hematopoietic stem cell transplantation.Allo-HSCT is currently an effective modality for the treatment of pediatric patients with LSD,especially unrelated cord blood,which is the optimal graft source for the treatment of LSD.The younger the age of transplantation,the greater the benefit.Therefore,early transplantation at a definite diagnosis is emphasized and recommend before the onset of obvious symptoms.Most of the domestic institution choose the myeloablative conditioning as the conditioning regimen.