CD_(34)~+细胞分选的无血缘相关供者造血干细胞移植成功治疗儿童石骨症1例

目的报道1例恶性石骨症患儿及其行CD3+4细胞分选的无血缘相关供者造血干细胞移植的疗效。方法1岁2个月女性患儿,因4个月时不能抬头,就诊发现肝脾肿大,外周血血红蛋白下降,X线检查示全身骨骼皆见骨密度增高、骨纹理消失、髓腔闭塞,同时伴有头颅畸形,诊断为石骨症。采用BuCyl+Flu的预处理方案,行HLA全相合的CD34+细胞分选的无血缘相关供者造血干细胞移植。结果患者于移植后+9天外周血白细胞数为1.6×109/L,中性粒细胞绝对值1.1×109/L,造血初步恢复,+45天性染色体示100%供者型(男性),B超显示肝脾肿大明显好转。患儿+95天出现自身免疫性溶血性贫血,最低血红蛋白达24 g/L,免疫抑制治疗后治愈:移植后+140天,患儿X线示各骨出现骨髓质区,骨穿示骨髓增生活跃,在1个月不输血情况下,外周血白细胞4.7×109/L,血红蛋白125 g/L,血小板193×109/L,移植成功。结论恶性石骨症为较罕见的遗传性疾病,病死率高,异基因造血干细胞移植是目前治愈本病的可行方法。

Transplantation of highly purified CD+34 hematologic peripheral stem cells from unrelated donor in the treatment of a child with osteopetrosis

Objective To report on a case of autosomal recessive osteopetrosis after successful engraftment by CD+34 selected haematopoietic stem cell from an unrelated donor.Methods The patient was a 14 month old girl with a mildly haemoglobin level reduced.Physical examination showed splenohepatomegalia.Increased bone density and no recognizable bone marrow cavity are apparent in an X-ray radiograph.After being diagnosed autosomal recessive osteopetrosis,The girl then underwent a CD+34 selected hematopoietic stem cell transplantation from an unrelated donor with BuCyl+Fludarabine as conditioning regent.Results Engraftment was deemed successful at the day of +9 post-transplant when its peripheral white blood cells was 1.6×109/L,and absolute value of neutrophilic leukocyte was 1.1×109/L.Her sex-chromosome changed into donor's at the day of+45 post-transplant and her splenohepatomegalia improved.Its major complication is autoimmune hemolytic anemia at the day of +95 that cured after immunosuppressive therapy.Transplant was successful at the day of +140 post-transplant when bone marrow cavity showed up in an X-ray radiograph,bone marrow changed into active and no blood transfusion for one month,its peripheral white blood cells was 4.7×109/L,hemoglobin was 125 g/L,platelet was 193×109/L.Conclusion CD34 selected hematopoietic stem cell transplantation maybe a successful treatment for patients with autosomal recessive osteopetrosis.