Diamond-Blackfan贫血诊断及治疗的研究新进展  

Advances in diagnosis and treatment of Diamond-Blackfan anemia

作　　者：刘梦圆 王化泉[1] 邵宗鸿[1] Liu Mengyuan;Wang Huaquan;Shao Zonghong(Department of Hematology,General Hospital of Tianjin Medical University,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院血液科,300052

出　　处：《国际输血及血液学杂志》2021年第2期108-115,共8页International Journal of Blood Transfusion and Hematology

基　　金：国家自然科学基金(81170472、81370607、81570111、81770118);天津市科技重大专项与工程(18ZXDBSY00140);天津市自然科学基金(16JCZDJC35300)。

摘　　要：先天性纯红细胞再生障碍性贫血(PRCA),又被称为Diamond-Blackfan贫血(DBA),是先天性骨髓衰竭综合征(IBMFS)的亚型之一,主要累及红系造血。该病的临床特征主要有红系造血衰竭、先天发育异常和肿瘤易患性。DBA临床十分罕见,临床医师对该病尚缺乏系统认识,易导致该病的漏诊、误诊,并且治疗方式不一。为了进一步指导DBA的临床诊断及治疗,笔者主要对该病的发生机制、临床特点、实验室检查结果、诊断,以及药物治疗、输血及去铁治疗、造血干细胞移植(HSCT)与基因治疗的最新研究进展进行阐述。Congenital pure red cell aplasia anemia(PRCA),also known as Diamond-Blackfan anemia(DBA),is a subtype of inherited bone marrow failure syndromes(IBMFS),mainly involving erythropoiesis.DBA is characterized by erythroid hematopoietic failure,congenital abnormalities,and cancer predisposition.In clinical practice,low incidence of DBA and unsystematic cognition easily lead it to be undiagnosed or misdiagnosed.And treatment strategies of DBA varies.In order to further guide diagnosis and treatment of DBA,this article focuses on the latest progresses among the pathogenesis,clinical features,laboratory examination results,diagnosis,drug therapy,blood transfusion and iron removal therapy,hematopoietic stem cell transplantation(HSCT)and gene therapy of this disease.

关 键 词：红细胞再生障碍 纯 贫血 Diamond-Blackfan 先天性骨髓衰竭综合征 诊断 药物疗法 输血 造血干细胞移植 基因疗法 

分 类 号：R725.5[医药卫生—儿科]