半相合造血干细胞移植治疗重型先天中性粒细胞减少症  

Haploid hematopoietic stem cell transplantation in severe congenital neutropenia

作　　者：陈姣 刘周阳 樊世芬 孙媛 CHEN Jiao;LIU Zhouyang;FAN Shifen;SUN Yuan(Hematology and Oncology Department,Beijing JingDu Children′s Hospital,Beijing 102208,China)

机构地区：[1]北京京都儿童医院血液肿瘤科,北京102208

出　　处：《中国小儿血液与肿瘤杂志》2021年第6期359-361,364,共4页Journal of China Pediatric Blood and Cancer

摘　　要：目的了解重型先天中性粒细胞减少症(SCN)临床特点及诊断标准,探讨造血干细胞移植(HSCT)治疗SCN的适应症及疗效。方法回顾性分析1例行挽救性半相合HSCT的SCN患者临床资料,并复习相关文献。结果患儿女,9岁发病,反复感染,ANC<0.5×10^(9)/L,骨髓涂片示粒系增生受抑制,染色体核型正常,虽未找到致病基因突变,但符合SCN临床诊断。因合并严重软组织感染行挽救性半相合HSCT后治愈。结论SCN是一类先天骨髓衰竭性疾病。G-CSF是一线治疗手段,HSCT是唯一治愈方法。G-CSF治疗无反应及发生骨髓增生异常综合(MDS)或白血病是移植绝对适应证。G-CSF>8ug/(kg·d)治疗反应差、ELANE突变为Gly185Arg、存在MDS相关遗传学异常或CSF3R基因突变等也强烈推荐HSCT。Objective To explore clinical characteristics and diagnostic criteria of patients with severe congenital neutropenia(SCN)and to investigate the indications and efficacy of allo hematopoietic stem cell transplantation(HSCT)for SCN.Methods Clinical data of a patient with SCN who underwent remedial haplo-HSCT was retrospectively analyzed.Results The patient was a girl who started to have recurrent infections since 9 years old.She was diagnosed as SCN because the ANC<0.5×10^(9)/L in the periphereal blood,inhibition of granulocyte lineage hyperplasia in bone marrow morphology and normal karyotype though without pathogenic gene mutation.She recovered after remedial haplo-HSCT.Conclusions SCN is a congenital bone marrow failure disorder.Granulocyte colony-stimulating factor(G-CSF)is the first line treatment,but allo-HSCT is the only curative therapy.The absolute indications for HSCT are a failure to respond to G-CSF and the development of myelodysplastic syndrome(MDS)or leukemias.High-risk patients that should strongly be considered for HSCT include patients who takes high doses of G-CSF>8ug/(kg·d)with poor response in neutrophil counts and patients who harbors the Gly185Arg mutation in the ELANE gene,genetic abnormalities associated with MDS or CSF3R gene mutation.

关 键 词：先天中性粒细胞减少症 重型 造血干细胞移植 

分 类 号：R725.5[医药卫生—儿科]