异基因造血干细胞移植治疗Shwachman-Diamond综合征4例并文献复习  

Allogeneic hematopoietic stem cell transplantation in Shwachman-Diamond syndrome:4 cases report and review of the literature

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

机构地区：[1]北京京都儿童医院血液科,北京102208

出　　处：《中国小儿血液与肿瘤杂志》2023年第6期351-355,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的总结Shwachman-Diamond综合征(SDS)临床特点,探讨异基因造血干细胞移植(allo-HSCT)治疗SDS的安全性及有效性。方法回顾性分析2015年7月—2022年2月在北京京都儿童医院治疗的SDS患儿临床资料,并复习相关文献。结果共纳入4例患儿,男2例,女2例。4例均生后1月以腹泻起病,中位诊断年龄38.5(14-70)个月,均为SBDS基因复合杂合突变。4例均有脂肪泻、淀粉酶减低、胰腺超声或影像学异常、牙齿发育不良及生长发育迟缓。1例严重慢性中性粒细胞减少症,1例急性髓系白血病,2例骨髓增生异常综合征(MDS)。中位移植时间为44.5(25-73)个月。1例行非血缘外周血干细胞移植;3例行非血缘脐带血移植。4例均进行清髓预处理,并成功植入,1例移植后出现MDS复发行二次移植后再次复发。移植后中位随访时间35(14~92)个月,3例无病存活,1例带病存活。结论SDS出现严重血细胞减少、MDS及白血病时,allo-HSCT是安全有效的一种治疗方式。Objective To explore clinical characteristics of patients with Shwachman-Diamond syndrome(SDS),investigate the safety and efficacy of allogeneic hematopoietic stem cell transplantation(allo-HSCT)for Shwachman-Diamond syndrome.Methods Patients with SDS who underwent allo-HSCT in the Department of hematology,Beijing Jingdu Childrens Hospital from July 2015 to February 2022 were enrolled.The clinical manifestations,gene analysis of the patients were summarized.Results A total of four patients(2 males and 2 females)with confirmed SDS were included.The median age of onset was 1 month and the median age at diagnosis was 38.5 months.Four cases all had SBDS compound heterozygous mutations.All the four patients had fatty diarrhea,decreased amylase,pancreatic abnormality on ultrasound or imaging,dental dysplasia and growth retardation.They underwent allo-HSCT because of severe chronic neutropenia in 1 case,myelodysplastic syndrome(MDS)in 2 cases and acute myeloid leukeia(AML)in 1 case.The median age of HSCT was 44.5 months.They all got myeloablative conditioning chemotherapy and successful implantation.One patient who had MDS compared with complex karyotype relapsed and had a second transplant.During the median observation period of 35 months after HSCT,threecases were disease-free survival,one casewas alive with minimal residual disease.Conclusions Our experience indicates that allo-HSCT is a feasible treatment when the patients with SDS developed severe cytopenia or MDS/AML.

关 键 词：Shwachman-Diamond综合征 异基因造血干细胞移植 骨髓增生异常综合征 骨髓衰竭 白血病 

分 类 号：R725.9[医药卫生—儿科] R457.7[医药卫生—临床医学]