先天性红细胞生成异常性贫血发病机制研究进展

Research Progress of Pathogenesis in Congenital Dyserythropoietic Anemia

先天性红细胞生成异常性贫血（CDA）是一组以骨髓红系无效造血、有独特的光学显微镜及电镜形态学改变为特征的先天性贫血性疾病.其临床表现主要为自出生或婴幼儿时期,即开始出现不同程度的贫血、黄疸及肝、脾大,并常继发胆石症和铁过载.近年,多数文献研究已对单一类型CDA或CDA Ⅰ、Ⅱ、Ⅲ型及变异型的临床特征,分子机制和诊断方法等进行概述.笔者主要从各型CDA发病机制中的相关致病基因、异常信号传导、细胞周期紊乱与膜的糖基化异常及基因型与表现型的关系等进行更深入的综述研究,旨在整体了解和掌握各型CDA,及探索各型CDA之间可能存在的联系.

Congenital dyserythropoietic anemia （CDA） is a series of diseases characterized by ineffective bone marrow erythropoiesis and unique morphology in optical microscope and electron microscope.The patients manifest various anemia,jaundice,hepatomegaly and splenomegaly in birth time,infants or young children periods,leading to gallstones or iron overload often.Clinical features,molecular mechanism,diagnostic approach and other aspects of single type of CDA or CDA Ⅰ,CDA Ⅱ,CDAⅢ and CDA variants as a whole have been presented in most essays in recent years.We now review the research progress of pathogenesis in CDA from a special profound perspective to promote the comprehensive understanding and to explore the possible relations among different types of CDA,regarding mutated genes,abnormal signal conduction pathway,cell cycle disorders,abnormal glycosylation,the relationship between genotype and phenotype as standard classifications and so on.