9例先天性纯红细胞再生障碍性贫血患者临床分析并文献复习

The clinical analysis of 9 patients with Diamond-Blackfan anemia and the review of literatures

目的:总结先天性纯红细胞再生障碍性贫血(DBA)的临床表现、实验室检查和治疗转归,进一步探讨DBA发病机制、诊断标准和治疗方法。方法:采用回顾性分析和文献复习的方法,对9例DBA患者进行研究。结果:9例DBA患者中,5例伴发先天畸形,4例身材矮小。初诊时Hb为(26～57)g/L[(43.3±10.7)g/L],MCV为80.3～112.5fl,网织红细胞比例均<1%,其中8例<0.5%,白细胞、血小板计数正常。66.7%患儿为O型血。全部病例骨髓检查红系增生低下0.5%～1.0%。7例患儿B淋巴细胞比例明显增高,6例患儿NK细胞比例降低或为正常低限。治疗以单纯激素口服为主,失访1例,余全部病例均对激素治疗完全有效,其中3例现已完全缓解。结论:本病为少见先天遗传性疾病,起病早,贫血重,多伴发身体畸形。诊断的主要指征是红细胞、Hb、网织红细胞比例减少及骨髓红系增生低下,而粒系及血小板增生正常;次要指征为婴幼儿期发病,并发先天畸形及身材矮小。本病国内临床诊断主要为排他性诊断。肾上腺皮质激素治疗起效快,治疗反应率高,治疗效果良好。

Objective：The clinical features,treatment and prognosis of a rare inherited pure red cell aplasia （DBA） were analyzed,and the related literature was reviewed.Method：Retrospective investigation of 9 patients with DBA in our hospital.Result：Five patients have physical abnormality and four with the height lower than 3% of the normal in 9 DBA cases. Hb levels were 26~57 g/L （43.3±10.7g/L）,MCV was 80.3~112.5 fl,the percent of Ret was less than 1%,and WBC and platelet were normal. The 66.7% patients blood type was O type. The bone marrows of all patients were hyperplasia,especially in red blood cells,and seven patients had high B lymphocyte. The percents of NK cell were lower than normal . In glucocoticoid immunosuppressive therapy,but 1 patient lost ,the respond rate was 100% and the release rate was 33.3%.Conclusion：DBA is a rare inherited disease with the character of early onset,heavy anemia and frequently physical abnormality. The diagnosis of DBA was an exclusive diagnosis and DBA has a good response to glucocoticoid immunosuppressive therapy.