45例先天性纯红细胞再生障碍性贫血临床分析  

Analysis of Clinical Characteristics in 45 Cases of Diamond-Blackfan Anemia

作　　者：陈玉梅 阮敏 王雅琴 邹尧 张丽 刘天峰 竺晓凡 

机构地区：[1]中国医学科学院、北京协和医学院血液学研究所、血液病医院儿童血液病诊疗中心,天津300020

出　　处：《中国实验血液学杂志》2012年第3期646-649,共4页Journal of Experimental Hematology

基　　金：天津市自然科学基金项目(编号10JCYBJC12600);天津市应用基础与前沿技术研究计划(编号10JCYBJC12650)

摘　　要：本研究旨在探讨先天性纯红细胞再生障碍性贫血(Diamond-Blackfan anemia,DBA)的诊断和治疗。对我院1994年2月至2011年7月期间诊治的45例DBA患者进行回顾性分析,总结其临床表现、实验室检查特点及治疗、预后情况。结果表明,45例DBA患者的发病年龄为1-15个月,其中男23例,女22例,14例(31.1%)患儿合并身材矮小及躯体畸形;实验室检查表明,血红蛋白及网织红细胞均下降,平均红细胞体积正常34例(75.6%),增大11例(24.4%);骨髓检查红系增生低下;胎儿血红蛋白(HbF)检查29例,13例(44.8%)增高;骨髓红系干细胞培养25例,12例(48%)增生正常,13例(52%)增生低下;红细胞生成素(EPO)检测17例,均明显增高;染色体核型检查28例,均为正常核型。36例患儿服用糖皮质激素治疗,其中6例联合服用了环孢菌素A;30例(83.3%)患儿对激素治疗反应良好,10例患儿一直应用小剂量糖皮质激素维持治疗,20例停药后有15例(75%)复发,再次应用激素仍有效,但有2例进展成再生障碍性贫血,1例应用环孢菌素A及抗淋巴细胞球蛋白等治疗无效死亡;6例激素无效,1例加用环孢菌素A后获得缓解,其他患儿间断输血,3例需加用去铁治疗。结论:临床特征、血像及骨髓像,EPO和HbF检测有助于DBA患儿诊断,糖皮质激素治疗效果良好,但大部分停药复发,需要小剂量维持,激素治疗无效者可间断输血加去铁治疗。In order to explore the diagnosis and therapy of Diamond Blackfan anemia（DBA）,the clinical data of 45 cases of DBA admitted in our hospital from February 1994 to July 2011 were analyzed retrospectively.The clinical characteristics,results of laboratory examination,treatment reaction and outcome of disease were investigated.The results indicated that out of 45 children diagnosed as DBA,14 cases（31.1%） had short stature and physical malformation.All patients had anemia with reticulocytopenia.Thirty-four patients（75.6%） had mean corpuscular volume.Eleven patients（24.4%） had macrocytic anemia.Bone marrow examination showed a marked erythroid hypoplasia in all patients.Out of 29 cases tested for fetal hemoglobin（HbF）,13 cases（44.8%） had high level of HbF.Erythroid colony-forming unit of bone marrow was tested in 25 patients,among them 12 patients（48%） showed normalplasia,13（52%） showed hypoplasia.The erythropoietin（EPO） levels of 17 patients were elevated.Karyotypes were examined in 28 patients,and showed all normal.The treatment was based on corticosteroids and Cyclosporine A.Thirty patients had good response to corticosteroid therapy,and 10 of them obtained a sustained corticosteroid-induced remission.Twenty cases discontinued corticosteroid therapy after remission,as a result,15 cases（75%） relapsed,moreover all the relapsed cases still had good response to corticosteroid.Two relapsed patients suffered from aplastic anemia,one of them died of therapy failure.Six patients were unresponsive to corticosteroid,1 of which achieved remission with cyclosporine A and the others continued to receive regular transfusions.3 patients received iron chelation therapy.It is concluded that the clinical characteristics,complete blood count,bone marrow smear,HbF level and EPO level are useful to make a diagnosis of DBA.Most patients have a good response to corticosteroid therapy,but relapse rate is high when drug was discontinued.Patients unresponsive to corticosteroid should receive regular tr

关 键 词：再生障碍性贫血 纯红细胞再生障碍性贫血 

分 类 号：R556.5[医药卫生—血液循环系统疾病] R725.5[医药卫生—内科学]