摘要
先天性纯红细胞再生障碍又名Diamond-Blackfan贫血(DBA),是以单纯红系再生障碍和先天性畸形为特征的遗传性疾病,以贫血、身体发育异常和肿瘤易感性为主要临床特征。核糖体蛋白质(RP)基因突变是DBA的主要发病机制,最常见的基因突变类型为RPS19基因突变,目前已在DBA患者中发现了19个RP基因的杂合突变及其他非RP基因的突变。本文对基因突变引起DBA的最新研究进展进行综述。
Congenital pure red cell aplasia,also known as Diamond-Blackfan anemia(DBA),is a hereditary disease characterized by pure red cell aplasia and congenital malformation.Its main clinical features are anemia,dysplasia,and tumor susceptibility.Ribosomal protein(RP)gene mutation is the main pathogenesis of DBA.The most common type of gene mutation is RPS19 gene mutation.Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA.This review summarized briedfly the latest research advances in the pathogenesis of DBA.
作者
刘文雅
王化泉
邵宗鸿
LIU Wen-Ya;WANG Hua-Quan;SHAO Zong-Hong(Department of Hematology,Tianjin Medical University General Hospital,Tianjin 300052,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2021年第5期1654-1657,共4页
Journal of Experimental Hematology
基金
国家自然科学基金(81770118)
天津市科技重大专项与工程(18ZXDBSY0014)。
