摘要
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问平均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15．7d（9～36d），血小板植入平均43．3d（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47d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。
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 eyclophosphamide. All patients received eyelosporin 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.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2012年第11期807-812,共6页
Chinese Journal of Pediatrics
关键词
造血干细胞移植
骨髓移植
骨硬化症
婴儿
Hematopoietic stem cell transplantation
Bone marrow transplantation
Osteopetrosis
Infant
