异基因造血干细胞移植治疗Shwachman-Diamond综合征:3例报告及文献复习  

Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome:a report of three cases and literature review

作　　者：冯安华 施继敏[1] 傅华睿[1] 余建[1] 郑伟燕[1] 朱园园[1] 黄河[1] 赵妍敏[1] Feng Anhua;Shi Jimin;Fu Huarui;Yu Jian;Zheng Weiyan;Zhu Yuanyuan;Huang He;Zhao Yanmin(Bone Marrow Transplantation Center,the First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China;Department of Hematology,Affiliated Hospital of Shandong Second Medical University,Weifang 261035,China)

机构地区：[1]浙江大学医学院附属第一医院骨髓移植中心,杭州310003 [2]山东第二医科大学附属医院血液病科,潍坊261035

出　　处：《中华血液学杂志》2024年第7期689-693,共5页Chinese Journal of Hematology

摘　　要：研究报告了在浙江大学医学院附属第一医院接受异基因造血干细胞移植(allo-HSCT)的3例Shwachman-Diamond综合征(SDS)患者,并结合相关文献资料总结SDS的临床表现和基因突变特征,探讨allo-HSCT对此类患者的疗效及移植时机。3例SDS患者均为男性,移植年龄分别为32、33、32岁。3例患者均为幼年发病,例1以贫血为首发临床表现,后逐渐进展为全血细胞减少;例2、3均以全血细胞减少为首发临床表现。例1、3有智力障碍,例3有胰腺脂肪化及慢性胰腺炎表现。3例患者均身材矮小。3例患者均检出SBDS:c.258+2T>C剪切位点杂合突变。3例患者的家系成员均无SDS临床表现。3例患者均采用减低剂量预处理方案(氟达拉滨+白消安+司莫司汀+兔抗人胸腺细胞免疫球蛋白)。例1、例2行单倍体造血干细胞移植,例3行无关供者造血干细胞移植。例1移植前诊断骨髓增生异常综合征转化急性髓系白血病,移植后早期复发并死亡;例2为继发性植入不良,血小板输注依赖;例3移植后脱离药物维持治疗,血常规正常。This study reports on three patients with Shwachman-Diamond syndrome(SDS)who underwent allogeneic hematopoietic stem cell transplantation(allo-HSCT)at the First Affiliated Hospital of Zhejiang University School of Medicine.Based on relevant literature,the clinical manifestations and genetic mutation characteristics of SDS were summarized,and the efficacy and timing of allo HSCT for such patients were explored.Three SDS patients were all male,with transplant ages of 32,33,and 32 years old,respectively.All three patients were diagnosed in childhood.Case 1 presented with anemia as the initial clinical manifestation,which gradually progressed to a decrease in whole blood cells;Case 2 and 3 both present with a decrease in whole blood cells as the initial clinical manifestation.Case 1 and 3 have intellectual disabilities,while case 3 presents with pancreatic steatosis and chronic pancreatitis.All three patients have short stature.Three patients all detected heterozygous mutations in the SBDS:c.258+2T>C splice site.The family members of the three patients have no clinical manifestations of SDS.All three patients were treated with a reduced dose pre-treatment regimen(Fludarabine+Busulfan+Me-CCNU+Rabbit Anti-human Thymocyte Globulin).Case 1 and case 2 underwent haploid hematopoietic stem cell transplantation,while case 3 underwent unrelated donor hematopoietic stem cell transplantation.Case 1 was diagnosed with myelodysplastic syndrome transforming into acute myeloid leukemia before transplantation,but experienced early recurrence and death after transplantation;Case 2 is secondary implantation failure,dependent on platelet transfusion;Case 3 was removed from medication maintenance treatment after transplantation,and blood routine monitoring was normal.

关 键 词：全血细胞减少 骨髓增生异常综合征 急性髓系白血病 慢性胰腺炎 药物维持治疗 身材矮小 血小板输注 造血干细胞移植 

分 类 号：R457.7[医药卫生—治疗学] R596[医药卫生—临床医学]