造血干细胞移植治疗重型先天性中性粒细胞缺乏症的临床研究  

Clinical research on treatment of severe congenital neutropenia by hematopoietic stem cell transplantation

作　　者：吴南海[1] 栾佐[1] 唐湘凤[1] 王凯[1] 鲍亮[1] 杜宏[1] 

机构地区：[1]中国人民解放军海军总医院儿科,北京100048

出　　处：《中国小儿血液与肿瘤杂志》2013年第6期250-254,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的探讨造血干细胞移植对重型先天性中性粒细胞缺乏症(SCN)的治疗效果。方法 1例2岁7个月SCN患儿,经粒细胞集落刺激因子(G-CSF)治疗7个月无效后行HLA不全相合无关脐血移植,预处理采用BU/CY+Flud方案[马利兰(BU)1.2 mg/kg·次,每6 h一次,连用4 d;环磷酰胺(CY)60 mg/(kg·d),连用2 d;氟达拉滨(Flud)30 mg/(m2·d),连用4 d。输入脐血有核细胞11.24×107/kg,CD34+细胞6.41×105/kg。移植物抗宿主病(GVHD)的预防采用抗胸腺球蛋白+环胞菌素A+吗替麦考酚酯。移植后应用G-CSF加速造血重建。结果 +17 d粒细胞植入,+21 d血小板植入,+20 d取患儿骨髓经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。+24 d出现Ⅱ度GVHD;无肝静脉闭塞病、间质性肺炎、出血性膀胱炎等并发症,未出现慢性GVHD。随访14个月,前囟闭合,身高增加3 cm,复查颅骨及膝关节X线片,骨质疏松明显好转,免疫球蛋白及补体正常,T细胞、B细胞亚群及NK细胞基本正常。结论本例为我国首例采用造血干细胞移植治疗SCN成功,为今后SCN的治疗积累了初步的经验。Objective To explore the efficacy of hematopoietic stem cell transplantation （HSCT） for treatment of Severe Congenital Neutropenia（SCN）. Methods A 2-year-and-7-month old child with SCN received treatment of HLA-mismatched unrelated cord blood stem cell transplantation （CBSCT） after treatment failure with granulocyte colony-stimulating factor （G-CSF） for 7 months. The conditioning regimen was BU/CY ＋ Flud as follows ： Busulfan （BU） with the dosage of 1.2 mg/kg, once every 6 hrs, and 16 times in all; cyclophosphamide（CY） with the dosage of 60 mg/kg daily for 2 days and fludarabine （Flud） with the dosage of 30 mg/m2 daily for 4 days. After conditioning treatment, II. 24 x 107/kg of cord blood nucleated cells and 6.41 × 10^5/kg CD34 positive cells were transplanted into the child with SCN. The combination of antihuman thymocyte globulin （ATG） , eyclosporin A （CsA）and mycophenolate mofetil （MMF） was administrated for prophylaxis of graft versus host disease （GVHD）. After transplantation the patient was given G-CSF to promote reeonstitution of hematopoiesis. Results The reconstitution time of granuloeyte and platelet were respectively 17 days and 21 days. Short tandem repeat （STR） DNA fingerprinting showed a full donor chimerism on day 20 after transplantation and stable chimerism till now. Grade-II acute GVHD occurred on day 24 after transplantation. Other complications such as hepatic venous occlusive disease （hVOD）, interstitial pneumonia （IP）, hemorrhagic cystitis （HC）, etc. did not occur. Chronic GVHD also didnl develop. In a 14-month follow-up, hisbregmatic fontanel had been closed and body height had increased by 3 cm. The examination of rechecked X-ray of skull and knee joint demonstrated that his osteoporosis had significantly improved. The immunological function assessment manifested that the immunoglobulins （IgG, IgM and IgA ） as well as complements had recovered after transplantation; the lymphocyte subpopulations such as T-lymphocytes, B-

关 键 词：造血干细胞移植 脐血 中性粒细胞缺乏症 先天性 重型 

分 类 号：R725.5[医药卫生—儿科]