异基因脐血间充质干细胞移植治疗Emery-Dreifuss型肌营养不良1例(英文)

Allogeneic cord blood mesenchymal stem cell transplantation for treating Emery-Dreifus muscular dystrophy in one case

2008-02南京医科大学附属无锡第二医院神经内科收治的男性患者1例,32岁,体质量38kg,四肢无力、肌萎缩18年,突发头晕、呕吐3d后入院,经基因分析和肌肉活检确诊为Emery-Dreifus型肌营养不良并发小脑梗死。经HLA配型在上海市脐血库中寻找到一个与受者非血源相关、HIA全相合、Rh血型相合、ABO血型主侧不合的脐血供体,于入院后第9天采用白消安+环磷酰胺+兔抗胸腺淋巴细胞球蛋白预处理后,通过外周静脉移植异基因脐血间充质干细胞悬液40mL,10滴/min,实际输入的有核细胞数为31.98×108。细胞移植5周后,患者头晕消失,吞咽困难、饮水呛咳症状明显好转,可连续饮水,双手协调动作较移植前好转,可操作电脑,体质量约增长4kg;移植后半年,血清肌酸磷酸激酶由移植前35.79μkat/L降至9.55μkat/L,血清肌酸磷酸激酶同工酶由移植前18.20μkat/L降至4.78μkat/L,肌红蛋白由移植前413.50μg/L降至213.20μg/L,功能独立性评分由71分提高至101分,未见免疫排斥反应及致瘤趋性。提示脐血间充质干细胞移植后能在短期内使血清肌酸磷酸激酶水平下降,改善运动功能,有助于Emery-Dreifuss型肌营养不良的治疗,近期安全性可靠。

A male patient, aged 32 years, weighing 38 kg, was recruited at the Department of Neurology, Wuxi Second Hospital, Nanjing Medical University in February 2008. The patient had general fatigue and amyotrophy for 18 years, and recruited in the hospital 3 days following burst dizziness and vomiting. Following genetic analysis and muscle biopsy, the patient was diagnosed as having Emery-Dreifus muscular dystrophy and cerebellar infarction. HLA compatible cord blood mesenchymal stem cell （CB-MSC） transplantation was performed. The grafted CB-MSCs were from Shanghai Cord Blood Bank. The donor was HIA all-identical, Rh blood type-identical, ABO blood type-incompatible. The patient received preconditioning of busulfan ＋ cyclophosphamide ＋ rabbit antithymocyte globulin. The patient then received peripheral venous administration of 40 mL CB-MSCs, 10 drops/minute, with total nucleated cell number of 31.98x 108. 5 weeks after transplantation, symptoms of dizziness, swallowing difficulty and regurgitation of fluid were markedly alleviated. His weight increased by 4 kg and he recovered of hand coordination to handling computer operation. 6 months following transplantation, serum creatine phosphokinase decreased from 35.79 μkat/L before transplantation to 9.55μkat/L; serum creatine phosphokinase isoenzyme reduced from 18.20 μ kat/L before transplantation to 4.78 μkat/L. Myoglobin decreased from 413.50 μg/L to 213.20 μg/L. Functional independence measure scores increased from 71 points to 101 points. Immunological rejection or tumorigenesis was not identified. CB-MSC transplantation can evidently decrease serum creatine phosphokinase level within a short period, and improve motor function in Emery-Dreifus muscular dystrophy patient. CB-MSC transplantation is beneficial for Emery-Dreifus muscular dystrophy, and short-term safety is reliable.