造血干细胞移植治疗湿疹血小板减少伴免疫缺陷综合征的临床研究——单中心11年回顾性分析

Hematopoietic stem cell transplantation in the treatment of Wiskott-Aldrich syndrome:a singlecenter 11 year retrospective analysis

目的探讨异基因造血干细胞移植(allo-HSCT)治疗湿疹血小板减少伴免疫缺陷综合征(WAS)的疗效、早期并发症、预后影响因素及脐血作为WAS移植供体选择的可行性。方法对上海儿童医学中心2006年11月-2018年9月接受allo-HSCT的29例确诊WAS患儿的临床资料进行回顾性分析。结果29例WAS患儿接受allo-HSCT治疗,其中13例接受脐血(UCB)移植,16例接受外周血干细胞(PBSC)移植,其中同胞全相合供体(MSD)移植2例,全相合无关供体(MUD)移植8例,不全相合无关供体(MMUD)4例,亲缘不全相合供体(MMSD)移植2例。经环磷酰胺+白消安+抗人胸腺球蛋白清髓性预处理后,所有患儿均获得完全植入。总体2年无病生存率为93%(27/29)。UCB和PBSC移植中性粒细胞和血小板植入中位时间分别为12d vs.11d(P=0.215)和47d vs.26d(P=0.133)。69%患者发生aGVHD,均为2~3度皮肤GVHD,UCB移植患者与PBSC移植患者相比aGVHD发生程度及持续时间无差异(P值分别为0.445和0.345)。不全相合较全相合供体移植aGVHD持续时间更长(P=0.001),但两者间aGVHD发生程度及频率差异无显著性(P=0.875)。导管相关血行感染主要发生于围移植期,发生率26.1%。结论allo-HSCT治疗WAS总体预后好,脐血是WAS患儿合适的造血干细胞来源。

Objective The aim of this study was to investigate the factors that may affect the efficacy,early infectious complications,and prognosis of allo-HSCT for WAS and the feasibility of umbilical cord blood as a donor for WAS transplantation.Methods The clinical data of 29 patients with WAS who received hematopoietic stem cell therapy from November 2006 to September 2018 were analyzed retrospectively.Results 13 patients received umbilical cord blood(UCB)transplantation and 16 patients received PBSC transplantation,including 2 matched sibling donors(MSD),8 matched unrelated donors(MUD),4 mismatched unrelated donors(MMUD),and 2 mismatched related donors(MMSD).After myeloablative conditioning with cyclophosphamide+busulfan+ATG,all children achieved complete engraftment.With the exception of two deaths,all 27 children achieved disease-free survival,with an overall 2-year disease-free survival rate of 93%.UCB and PBSC neutrophil and platelet engraftment median times were 12 days vs 11 days and 47 days vs 26 days,respectively(P=0.215 and 0.133,respectively).sixty-nine percent of patients developed aGVHD,all of which were grade 2-3 skin GVHD.There was no difference in the degree and duration of aGVHD between UCB transplantation and PBSC transplantation(P=0.445,0.345).The duration of aGVHD was longer in mismatched donor transplants versus matched donor transplants for WAS(P=0.001),but there was no difference in the degree and frequency of aGVHD between these two groups(P=0.875).Six patients developed catheter-related bloodstream infections during the peri-transplant period.Conclusions Allo-HSCT for WAS has a good overall prognosis.Umbilical cord blood is an appropriate source of hematopoietic stem cells for WAS children.