先天性红细胞生成异常性贫血Ⅰ型——1例报告暨文献复习  

A case report and literature review of congenital dysery thropoietic aneria type Ⅰ.

作　　者：马宏浩[1] 张蕊[1] 吴润晖[1] 茹永新[2] 张永红[1] 

机构地区：[1]首都医科大学附属北京儿童医院血液病中心,北京100045 [2]中国医学科学院中国协和医科大学血液学研究所血液病医院,天津300020

出　　处：《中国小儿血液与肿瘤杂志》2009年第5期216-220,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的报告一例先天性红细胞生成异常性贫血并进行文献复习,了解该病的临床特点和诊治方法。方法报告病历和诊断思路并进行相关文献复习。结果先天性红细胞生成异常性贫血(CDAⅠ型)为遗传性疾病,临床表现为贫血、黄疸以及脾肿大,实验室检查可见正细胞或大细胞性贫血、骨髓幼红细胞核畸形及染色质异常、铁蛋白升高。特异性的诊断标准为红细胞电镜可见红细胞胞核呈海绵样或瑞士奶酪样改变。本病易与溶血性贫血等病相混淆。目前针对CDA的治疗包括:①输血;②脾脏切除;③骨髓移植;④干扰素。结论先天性红细胞生成异常性贫血是一组罕见的遗传性疾病,以骨髓红细胞成熟异常和原位溶血为特征,临床易误诊。特异性的诊断标准为红细胞电镜可见红细胞胞核呈海绵样或瑞士奶酪样改变,骨髓移植治疗是主要的治疗方法。Objective Understand the clinical characteristics and the methods of diagnosis and treatment for Congenital Dyserythropoietic Anemia by a report of a case of such rare disease and literature review. Methods Report the case along with the diagnosis consideration and conduct review of relevant literature. Results Congenital dyserythropoietic anaemia （CDA type Ⅰ） is a inherited disorder, clinical features are anemia, jaundice and splenomegaly. Laboratory tests show normochromic anaemia, erythroblastoma malformation and chromatin dysfunction in bonemarrow, ferritin increase. The key method of diagnosis is electromicroscopical of erythrocyte-which find the nucleus of RBC present sponge or cheese forms. It should be differential diagnosed from hemolytic anemia, etc. Treatment include transfusion, splenectomy, bone marrow transplantation and interferon. Conclusion Congenital dyserythropoietic anaemia （CDA type Ⅰ）is a rare, inherited disorder, characterised by ineffective erythropoiesis and macrocytic anaemia, hard to diagnose. The key method of diagnosis is electromicroscopical of erythrocyte-which find the nucleus of RBC present sponge or cheese forms. Bone marrow transplantation is the main treatment.

关 键 词：CDA(Ⅰ型) 

分 类 号：R725.5[医药卫生—儿科]