序贯式干细胞移植术治疗假肥大型肌营养不良症临床研究

目的：观察假肥大型肌营养不良症（PMD）患儿接受序贯式干细胞移植术（SCT）后抗肌萎缩蛋白（dystrophin）的表达、dystrophin基因和运动功能的变化。方法：采用自身对照法,2008年2月至2010年11月对5例8～14岁男性PMD患儿接受序贯式SCT[即依次进行脐带间充质干细胞（UCMSC）经静脉内移植-UCMSC肌肉内移植-单倍体相合造血干细胞移植术（Haplo-HSCT）]治疗,观察患儿血清酶学、基因分析、肌电图、肌肉活检及肌萎缩蛋白、造血重建的植入证据的变化。结果：移植后①血清肌酸激酶数值显著降低;②PCR-STR检测4例为完全供者型嵌合,1例3/6位点相合患儿未植入为完全受者型;③4例外显子缺失患儿外周血及骨髓表达正常基因型;④肌肉活检显示供受者嵌合状态,缺失的外显子弱阳性表达。肌细胞形态改善,肌萎缩蛋白间断弱阳性表达;⑤肌力及运动功能较治疗前无减退或改善。结论：PMD患儿接受序贯式SCT后缺失的外显子转变为正常基因型,肌细胞膜有肌萎缩蛋白阳性或弱阳性表达,可提高患儿的运动功能。

Clinical Study of Pseudohypertrophic Muscular Dystrophy With Stem Cell Transplantation in Sequence Therapy

Aim:To investigate the feasibility and safety of therapy to 5 patients with pseudohypertrophic muscular dystrophy(PMD) who received stem cell transplantation in sequence by observing the change of motor function,muscle cytothesis and regeneration,expression of dystrophin and altering of depletion gene.Methods:After Medical Ethics Committee of PLA 463 Hospital gave license and patients' relatives signed informed consent,5 boys aged 8-14 with PMD were treated from February 2008 to November 2010.Firstly,intrav...