异基因造血干细胞移植治疗13例先天遗传性疾病患者的临床研究  

Clinical Research on Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of 13 Patients with Congenital Genetic Diseases

作　　者：韩怡天 郎涛[2] HAN Yitian;LANG Tao(Graduate School,Xinjiang Medical University,Urumqi,China;Department of Hematological,Xinjiang Uygur Autonomous Region People's Hospital,Urumqi 830000,China)

机构地区：[1]新疆医科大学研究生学院,新疆乌鲁木齐830000 [2]新疆维吾尔自治区人民医院血液病科,新疆乌鲁木齐830000

出　　处：《反射疗法与康复医学》2024年第24期84-87,99,共5页Reflexology And Rehabilitation Medicine

摘　　要：目的探讨异基因造血干细胞移植治疗范可尼贫血、先天性角化不良、血小板无力症的临床疗效。方法回顾性分析2017年9月—2023年9月新疆维吾尔自治区人民医院收治的13例先天遗传性疾病患者(范可尼贫血9例,先天性角化不良2例,血小板无力症2例)的临床资料。结果患者移植的中位年龄10(6~16)岁,所有患者均回输前期采集供者的骨髓干细胞和外周血干细胞,单个核细胞计数中位数为19.29(7.04~33.02)×10^(8)/kg,CD34+计数中位数为7.39(2.11~12.08)×10^(6)/kg。所有患者均取得造血重建,中性粒细胞中位植入时间为12(10~17)d,血小板植入时间中位数为16(10~63)d。急性移植物抗宿主病(aGVHD)和慢性移植抗宿主病累积发生率分别为38.46%和7.69%,其中Ⅲ~Ⅳ度aGVHD累积发生率为15.39%。随访时间中位数为19(6~42)个月,死亡原因包括死于多器官功能衰竭1例,死于新冠肺炎1例,没有发生继发性肿瘤,发生出血性膀胱炎2例,发生率为15.39%。未见肾脏损害及肝小静脉闭塞病等预处理相关毒性反应。结论异基因造血干细胞移植治疗范可尼贫血、先天性角化不良、血小板无力症可提高临床疗效,且预后较好。Objective Exploring the clinical efficacy of allogeneic hematopoietic stem cell transplantation in the treatment of Fanconi anemia,dyskeratosis congenita,and Glanzmann thrombasthenia.Methods Retrospective analysis of clinical data of 13 patients with congenital genetic diseases admitted to Xinjiang Uygur Autonomous Region People's Hospital from September 2017 to September 2023,including 9 cases of Fanconi anemia,2 cases of congenital keratosis,and 2 cases of thrombocytopenia.Results The median age of transplantation for patients was 10(6~16)years,and all patients received bone marrow stem cells and peripheral blood stem cells collected from the donor during the pre transfusion period,the median monocyte count was 19.29(7.04~33.02)×10^(8)/kg,and the median CD34+count was 7.39(2.11~12.08)×10^(6)/kg.All patients achieved hematopoietic reconstruction,with a median neutrophil engraftment time of 12(10~17)d and a median platelet engraftment time of 16(10~63)d.The cumulative incidence of acute graft-versus-host disease(aGVHD)and chronic graft-versus-host was 38.46%and 7.69%,respectively,with a cumulative incidence of gradeⅢ~ⅣaGVHD of 15.39%.The median follow-up time was 19(6~42)months.The causes of death included 1 case of multiple organ failure,1 case of COVID-19,no secondary tumor,and 2 cases of hemorrhagic cystitis,the incidence was 15.39%.No pre-treatment related toxic reactions such as kidney damage and hepatic small vein occlusion were observed.Conclusion Allogeneic hematopoietic stem cell transplantation for the treatment of Fanconi anemia,congenital hyperkeratosis,and thrombocytopenia can improve clinical efficacy and have a better prognosis.

关 键 词：先天遗传性疾病 异基因造血干细胞移植 临床研究 

分 类 号：R457.71[医药卫生—治疗学]