造血干细胞移植治疗重型β-地中海贫血合并肢带型肌营养不良1例报告并文献复习  

Hematopoietic stem cell transplantation in the treatment of severeβ-thalassemia with limb-girdle muscular dystrophy:a case report and literature review

作　　者：李越[1] 王晓东[1] 张小玲[1] 易梦 刘四喜[1] LI Yue;WANG Xiaodong;ZHANG Xiaoling;YI Meng;LIU Sixi(Shenzhen Children's Hospital,Shenzhen 518000,Guangdong,China)

机构地区：[1]深圳市儿童医院,广东深圳518000

出　　处：《临床儿科杂志》2020年第3期175-178,共4页Journal of Clinical Pediatrics

基　　金：深圳市三名工程项目(No.SZSM201512033)。

摘　　要：目的 探讨重型β-地中海贫血合并肢带型肌营养不良(LGMD)的造血干细胞移植治疗效果.方法 回顾分析1例重型β-地中海贫血(CD 17纯合子突变)合并LGMD 2 E患儿行亲缘性HLA全相合造血干细胞移植的治疗过程.结果 患儿,女,3岁5个月,供者为妹妹.移植预处理方案:氟达拉滨、白消安、环磷酰胺及抗人胸腺细胞免疫球蛋白;预防移植物抗宿主病方案:环孢素、吗替麦考酚酯及短程甲氨蝶呤.经静脉输注供者骨髓血406 mL,单个核细胞数11.3×10^8/kg,术后监测患儿血常规、植入证据及激酶水平.造血干细胞移植后,患儿重建造血及免疫功能.植入证据提示完全供者嵌合,嵌合率100%,但血清酶学无明显下降,血清肌酸激酶维持在20000~25000 IU/L,四肢肌力逐渐下降,近期双下肢肌力3~4级,双上肢肌力4级,易摔倒.结论 异基因造血干细胞移植可以治愈患儿的地中海贫血,但无法改善肌营养不良症状.Objective To explore therapeutic effect of hematopoietic stem cell transplantation for severeβ-thalassemia with limb-girdle muscular dystrophy(LGMD).Methods The therapeutic process of a case of severeβ-thalassemia(CD17 homozygous mutation)with LGMD2E treated by HLA-matched hematopoietic stem cell transplantation was analyzed retrospectively.Results The child was a girl aged 3 years and 5 months.The donor was her sister.The conditioning regimen consisted of fludarabine,busulfan,cyclophosphamide,and anti-human thymocyte immunoglobulin.The graft-versus-host disease(GVHD)prophylaxis consisted of cyclosporine,mycophenolate mofetil and short-term methotrexate.The stem cells(406 mL donor bone marrow)were intravenously infused into the patient,and the number of mononuclear cells was 11.3×10^8/kg.Blood routine,engraftment evidence,and kinase level were detected after transplantation.After hematopoietic stem cell transplantation,the child had reconstructed hematopoietic and immune function,and the data suggested complete donor chimerism,with a chimerism rate of 100%.However,there was no significant decrease in serum enzyme,and serum creatine kinase maintained at 20000~25000 IU/L.The strength of the limbs was gradually decreasing.Recently,the muscle strength of both lower limbs was grade 3~4,and that of both upper limbs was grade 4,making the child prone to falling.Conclusion Allogeneic hematopoietic stem cell transplantation can cure thalassemia in children,but it does not improve the symptoms of muscular dystrophy.

关 键 词：地中海贫血 肢带型肌营养不良 移植 

分 类 号：R725.5[医药卫生—儿科] R746[医药卫生—临床医学]