无关脐血移植治疗Ⅰ型黏多糖病.pdf

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1、中华实用儿科Il笛床杂志2015年4月第3O卷第8期ChinJApplClinPediatr，April2015，Vo1．30。No．8·遗传代谢内分泌疾病·无关脐血移植治疗I型黏多糖病吴南海栾佐鲍亮唐湘凤【摘要】目的探讨无关脐血移植对I型黏多糖病(MPSI)的治疗效果。方法1例4岁2个月男性MPSI患儿，确诊后行人类白细胞抗原不全相合无关脐血移植，预处理采用白消安+环磷酰胺+氟达拉滨(Btt／Cy4+Flud)方案：Bu1．2ms／kg，每6h1次，用4d；Cy50ms／(kg·d)，用4d；Flud30ms／(m·d)，用4

2、d。移植当天为0d，移植前为一天数，移植后为+天数。输入脐血有核细胞4．60×10／kg，cD细胞3．05×10／kg。移植物抗宿主病(GVttD)的预防采用抗胸腺细胞球蛋白+环胞素+吗替麦考酚酯。移植后应用粒细胞集落刺激因子加速造血重建。结果+15d粒细胞系植入，+24d血小板植入，+21d取患者骨髓经STR基因位点检测证实为完全供者型嵌合状态，此后嵌合稳定。移植后83da—L一艾杜糖醛酸苷酶(IDUA)活性恢复正常，基因测序正常。+12d肺部感染合并肺动脉高压，+15d出现急性Ⅱ度肠道GVHD，+51d发生急性Ⅱ度皮肤GVH

3、D，+180d发生慢性GVHD(皮肤局限型)；+35d合并出血性膀胱炎。上述并发症均顺利治愈。移植后随访l8个月，患儿身高增加3cm，体质量增加2．4kg，角膜转为清亮，肝脾缩小至正常，尿黏多糖检测转阴，智力筛查较移植前稍有进步，但手指畸形及其他骨骼异常无明显变化。结论无关脐血移植治疗MPSI有确切疗效。本例为我国首例MPSI的无关脐血移植治疗，为今后MPsI的脐血移植治疗积累了初步经验。【关键词】造血干细胞移植；脐血；黏多糖病Clinicalresearchonunrelatedcordbloodtransplantation

4、treatmentforINan—hai，LuanZuo，BaoLiang，TangXiangfeng．DepartmentofPediatrics，NavalGeneralHospital，Beng100048，ChinaCorrespondingauthor：WuNanhai，Email：canghaigl@sohu．com【Abstract】ObjectiveToexploretheefficacyofunrelatedcordbloodtransplantationtreatmentofmueopo—lysacehari

5、dosisI(MPSI)．MethodsA4一year—and一2一month—oldboywithMPS1whoreceivedtreatmentofhumanleucocyteantigen—-mismatchedunrelatedcordbloodstemcelltransplantationafterdiagnosiswasidentified．Thepre—treatmentregimenwasBusulfan+Cyclophosphamide+Fludarabine(Bu／Cy4+Flud)．Buwiththedos

6、ageof1．2ms／kg，onceevery6hours，4days；Cywiththedosageof50ms／(kg·d)for4daysandFludwiththedosageof30mg／(m·d)lastedfor4days，respectively．Thedaythatthegraftwastransplantedwasdefinedas0day，daysbe—foretransplantationasnegativedays，daysaftertransplantationaspositivedays．After

7、pre—treatment，4．60x10／kgofcordbloodnucleatedcellsand3．05x10／kgCDdpositivecellsweretransplantedintothechild．ThecombinationofAntihumanthymocyteglobulin，CyclosporinAandMycophenolaternofetilwasadministratedforprophylaxisofgraftver-SUShostdisease(GVHD)．Aftertransplantatio

8、n，thepatientwasgivengranulocytecolonystimulatingfactortopromotereconstitutionofhematopoiesis．ResultsThemyeloidandplateletengraftmen