临床儿科杂志 第 38 卷第 3 期 2020 年 3 月 J Clin Pediatr Vol.38 No.3 Mar. 2020· 175 ·doi:10.3969/j.issn.1000-3606.2020.03.004
血清肌酸激酶基金项目：深圳市三名工程项目(No.SZSM 201512033)
肌营养不良1例报告并文献复习
四个计划李 越 王晓东 张小玲 易 梦 刘四喜
深圳市儿童医院
（广东深圳 518000）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 2E 患儿行亲缘性HLA 全相合造血干细胞移植的过 传媒梦工场
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11.3×108/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20 000~25 000 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，但无法改吉祥满族网
善肌营养不良症状。梅机关
关键词： 地中海贫血； 肢带型肌营养不良； 移植
Hematopoietic stem cell transplantation in the treatment of severe β-thalassemia with limb-girdle muscular dystrophy: a case report and literature review LI Yue, WANG Xiaodong, ZHANG Xiaoling, YI Meng, LIU Sixi (Shenzhen Children's Hospital, Shenzhen 518000, Guangdong, China)
Abstract: Objective To explore therapeutic effect of hematopoietic stem cell transplantation for severe β-thalassemia with limb-girdle muscular dystrophy (LGMD). Methods The therapeutic process of a case of severe β-thalassemia (CD17 homozygous mutation) with LGMD2E treated by H
LA-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 11.3×108/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 20 000~25 000 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.
Key words: thalassemia; limb-girdle muscular dystrophy; transplantation存在主义是一种人道主义
地中海贫血（thalassemia ，TM ）是全球累积人数最
多的常染体隐性单基因遗传的慢性溶血性疾病。造
血干细胞移植
（hematopoietic stem cell transplantation ，HSCT ）是目前临床根治重型β-TM 的唯一方法。肢
带型肌营养不良症
（limb-girdle muscular dystrophy ，LGMD ）是一组以近端肌（骨盆带肌和肩胛带肌）肌无力为主要表现的高度异质性遗传性肌病[1]，总患病率为(1.63 ~ 5.00)/10万[2]。LGMD 尚缺乏有效的方法，目前干细胞移植为研究热点，但其确切疗效及安全性尚不明确。本文回顾分析1例应用同胞HLA 全
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