CAJ | 학술논문

目的总结异基因造血干细胞移植治疗婴儿恶性石骨症(MIOP)的临床特点及治疗转归.方法回顾性分析北京儿童医院完成的8例异基因造血干细胞移植治疗MIOP患儿的资料.结果男:女为4:4.移植时年龄生后3～33个月(中位年龄13.5个月).从发病到行异基因造血干细胞移植等待时间平均8个月.其中 1例HLA配型全合无关供者采用CD34+分选外周血干细胞移植,2例无关脐血移植,5例父母单倍体骨髓+外周造血干细胞移植.预处理方案采用氟达拉滨(Flu)+马利兰(Bu)+环磷酰胺(Cy).环孢菌素A(CsA)预防移植物抗宿主病(GvHD),单倍体移植患儿联合抗胸腺球蛋白(ATG)/抗淋巴球蛋白(ALG)、吗替麦考酚酯(MMF)、甲氨蝶呤(MTX)协同预防GvHD.中性粒细胞植入时间平均15.7 d(9～36d),血小板植入平均43.3 d(10～68d).随诊最长5年,最短47d,7例患儿造血完全恢复,复查肝脾明显回缩,骨密度降低,骨髓腔逐渐形成.1例患儿移植后47 d因经济困难放弃治疗,造血未完全恢复,另1例患儿死于移植相关并发症.发生GvHD以Ⅰ°～Ⅱ°6例,Ⅲ°～Ⅳ°2例,经抗GvHD治疗能得到有效控制.结论采用非同胞全合供者行异基因造血干细胞移植治疗婴儿MIOP,单倍体移植患儿存活率高,并造血恢复.经抗GvHD治疗能得到有效控制.提示非同胞全合移植在MIOP患儿是有益的探索和尝试.
목적 총결이기인조혈간세포이식치료영인악성석골증(MIOP)적림상특점급치료전귀.방법 회고성분석북경인동의원완성적8례이기인조혈간세포이식치료MIOP환인적자료.결과 남:녀위4:4.이식시년령생후3～33개월(중위년령13.5개월).종발병도행이기인조혈간세포이식등대시간평균8개월.기중 1례HLA배형전합무관공자채용CD34+분선외주혈간세포이식,2례무관제혈이식,5례부모단배체골수+외주조혈간세포이식.예처리방안채용불체랍빈(Flu)+마리란(Bu)+배린선알(Cy).배포균소A(CsA)예방이식물항숙주병(GvHD),단배체이식환인연합항흉선구단백(ATG)/항림파구단백(ALG)、마체맥고분지(MMF)、갑안접령(MTX)협동예방GvHD.중성립세포식입시간평균15.7 d(9～36d),혈소판식입평균43.3 d(10～68d).수진최장5년,최단47d,7례환인조혈완전회복,복사간비명현회축,골밀도강저,골수강축점형성.1례환인이식후47 d인경제곤난방기치료,조혈미완전회복,령1례환인사우이식상관병발증.발생GvHD이Ⅰ°～Ⅱ°6례,Ⅲ°～Ⅳ°2례,경항GvHD치료능득도유효공제.결론 채용비동포전합공자행이기인조혈간세포이식치료영인MIOP,단배체이식환인존활솔고,병조혈회복.경항GvHD치료능득도유효공제.제시비동포전합이식재MIOP환인시유익적탐색화상시.
Objective Osteopetrosis is a rare genetic disorder and the malignant infantile osteopetrosis (MIOP) is the worst subtype of this disease.Seventy percent of patients die in six years of life without proper treatment.Hematopoietic stem cell transplantation (HSCT) offers the only chance of cure for MIOP.Method Retrospective analysis was performed on 8 patients with MIOP who underwent HSCT in Beijing Children' s Hospital during the period from 2006 to 2011.Result Eight cases (4 male and 4 female,mean age at HSCT 13.5 months) were diagnosed as malignant infantile osteopetrosis.Conditioning regimen included fludarabine,busulfan and cyclophosphamide.All patients received cyclosporin for prophylaxis of graft vs.host disease (GvHD).A UMD recipient underwent CD34+ cell selection.ATG/ALG,mycophenolate mofetil (MMF) and methotrexate (MTX) used for recipients with unrelated cord donor (2) and recipients with haplo-identical donors (5).Average time for neutrophil engraftment was 15.7 day (9-36),platelet engraftment was 43.3 day (10-68).The patients were followed up from 47 days to 5 years,1 patient died of post-transplant complications.Seven cases presented better in clinical manifestation.Acute GvHD Ⅰ °-Ⅱ ° was observed in 6 patients,Ⅲ°-Ⅳ° in 2 patients.It was controlled by anti-GvHD therapy.Conclusion Non-allogenic stem cell transplantation treatment of infantile MIOP showed high survival rate and restoration of hematopoiesis in haploid transplant patients,therefore,non-allogenic HSCT may be an option to treat MIOP in children.