One Case Analysis of Allogeneic Hematopoietic Stem Cell Transplantation in Treatment of EVI1 Positive Aplastic Anemia-Paroxysmal Nocturnal Hemoglobinuria Syndome

doi:10.3969/j.issn.1007-9572.2016.30.026

Chinese General Practice ›› 2016, Vol. 19 ›› Issue (30): 3765-3768.DOI: 10.3969/j.issn.1007-9572.2016.30.026

Department of Hematology,Yijishan Hospital,Wannan Medical College,Wuhu 241000,China Corresponding author:HUANG Dong-ping,Department of Hematology,Yijishan Hospital,Wannan Medical College,Wuhu 241000,China;E-mail:hdp＿9713@163.com

Published:2016-10-20 Online:2026-01-26

异基因造血干细胞移植治疗EVI1阳性阵发性睡眠性再生障碍性贫血-血红蛋白尿综合征一例临床分析

241000安徽省芜湖市，皖南医学院弋矶山医院血液内科通信作者：黄东平，241000安徽省芜湖市，皖南医学院弋矶山医院血液内科；E-mail：hdp＿9713@163.com

基金资助:
安徽省教育厅科研基金支持项目（KJ2016SD58）

Abstract

Abstract: Paroxysmal nocturnal hemoglobinuria is a benign clonal disease of hematopoietic stem cells,but it is often combined with complications such as recurrent hemolysis depended on transfusion,bone marrow failure,thrombosis,some can be transformed into aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome （AA-PNH） syndrome and lead to poor prognosis.The paper analyzes the clinical data of using myeloablative allogeneic hematopoietic stem cell transplantation in treatment of one patient with EVI1 positive AA-PNH syndrome,and reviews related literatures;the author believes that allogeneic hematopoietic stem cell transplantation can be used as a way of first-line treatment for young AA-PNH syndrome patients.

Key words: Hemoglobinuria,paroxysmal, Anemia,aplastic：Allogeneic hematopoietic stem cell transplantation, Myeloablative regimen

摘要： 阵发性睡眠性血红蛋白尿是造血干细胞良性克隆性疾病，但常出现输血依赖的反复发作性溶血、骨髓衰竭、血栓等并发症，部分可转变为阵发性睡眠性再生障碍性贫血-血红蛋白尿（AA-PNH）综合征，导致不良预后。本文对1例接受清髓性异基因造血干细胞移植治疗且伴有EVI1阳性AA-PNH综合征患者的临床资料进行分析并复习相关文献，认为异基因造血干细胞移植可以作为治疗年轻AA-PNH综合征患者的一线治疗方式。

关键词: 血红蛋白尿,阵发性, 贫血,再生障碍性, 异基因造血干细胞移植, 清髓性预处理

WEI Zhong-ling, DAI Yan, HUANG Lai-quan, JIANG Yi-zhi, HUANG Dong-ping. One Case Analysis of Allogeneic Hematopoietic Stem Cell Transplantation in Treatment of EVI1 Positive Aplastic Anemia-Paroxysmal Nocturnal Hemoglobinuria Syndome[J]. Chinese General Practice, 2016, 19(30): 3765-3768.

韦中玲, 戴艳, 黄来全, 蒋艺枝, 黄东平. 异基因造血干细胞移植治疗EVI1阳性阵发性睡眠性再生障碍性贫血-血红蛋白尿综合征一例临床分析[J]. 中国全科医学, 2016, 19(30): 3765-3768.

References

［1］付蓉,李丽燕.阵发性睡眠性血红蛋白尿症诊断及治疗专家共识解读［J］.中华医学杂志,2013,93（20）:1521-1523. ［2］KELLY R J,HILL A,ARNOLD L M,et al.Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria:sustained efficacy and improved survival［J］.Blood,2011， 117（25）:6786-6792. ［3］LOSCHI M,PORCHER R,BARRACO F,et al.Impact of eculizumab treatment on paroxysmal nocturnal hemoglobinuria:a treatment versus no-treatment study ［J］.Am J Hematol， 2016，91（4）:366-370. ［4］陈峰,吴德沛,唐晓文，等.异基因造血干细胞移植治疗18例阵发性睡眠性血红蛋白尿症疗效分析［J］.中华血液学杂志,2015,36（12）:1005-1010. CHEN F，WU D P，TANG X W，et al.Outcomes of allogeneic hematopoietic stem cell transplantation for 18 patients with paroxysmal nocturnal haemoglobinuria［J］.Chinese Journal of Hematology,2015,36（12）:1005-1010. ［5］PEFFAULT DE LATOUR R,SCHREZENMEIER H,BACIGALUPO A,et al.Allogeneic stem cell transplantation in paroxysmal nocturnal hemoglobinuria［J］.Haematologica,2012，97（11）:1667-1673. ［6］SANTARONE S,BACIGALUPO A,RISITANO A M,et al.Hematopoietic stem cell transplantation for paroxysmal nocturnalhemoglobinuria:long-term results of a retrospective study on behalfof the Gruppo Italiano Trapianto Midollo Osseo （GITMO）［J］.Haematologica,2010，95（6）:983-988. ［7］PANTIN J,TIAN X,GELLER N，et al.Long-term outcome of fludarabine-based reduced-intensityallogeneic hematopoietic cell transplantation for debilitatingparoxysmal nocturnal hemoglobinuria［J］.Biol Blood Marrow Transplant,2014,20（9）:1435-1454. ［8］SCHCOLNIK-CABRERA A,LABASTIDA-MERCADO N,GALINDO-BECERRA L S,et al.Reduced-intensity stem cell allografting for PNH patients in the eculizumab era:the Mexican experience［J］.Hematology，2015,20（5）:263-266. ［9］LE GUYADER M,PINEAU-VINCENT F,LEMAIRE P.Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome:a case report［J］.Ann Biol Clin （Paris），2016,74（1）:106-109. ［10］王宁,蔡云,汪鹏程，等.阵发性睡眠性血红蛋白尿症转为急性髓细胞白血病M5b 1例［J］.临床血液学杂志,2010,23（6）:692-694. ［11］陈字,陈彤,谢彦晖，等.阵发性睡眠性血红蛋白尿症转为急性白血病一例［J］.中华血液学杂志,2009,30（3）:216. ［12］李丽燕,付蓉,邵宗鸿，等.阵发性睡眠性血红蛋白尿症二次基因突变研究进展［J］.中华血液学杂志,2010,31（4）:282-284. ［13］张媛媛,付蓉,王一浩，等.WT1基因异常表达在阵发性睡眠性血红蛋白尿症发病机制中的作用［J］.中华血液学杂志,2014,35（7）:596-600. ZHANG Y Y，FU R，EANG Y H，et al.Abnormal WT1 gene expression in paroxysmal nocturnal hemoglobinuria［J］.Chinese Journal of Hematology,2014,35（7）:596-600. ［14］王树叶,杨喜晶,曹峰林，等.阵发性睡眠性血红蛋白尿症及再生障碍性贫血患者WT1基因启动子区甲基化状态的研究［J］.中华血液学杂志,2010,31（4）:273-274.