RPL5基因突变致先天性纯红细胞再生障碍性贫血1例并文献复习  

RPL5 gene mutation causes Diamond-Blackfan anemia: a case report and literature review

作　　者：李兵家 张红红 王宏胜 钱茂祥 翟晓文 Li Bingjia;Zhang Honghong;Wang Hongsheng;Qian Maoxiang;Zhai Xiaowen(Department of Hematology,the Children′s Hospital of Fudan University,Shanghai 201102,China;Institute of Pediatrics,the Children′s Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院血液科,上海201102 [2]复旦大学附属儿科医院儿科研究所,上海201102

出　　处：《中华实用儿科临床杂志》2021年第21期1654-1656,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：唐仲英基金会项目。

摘　　要：目的探讨儿童RPL5基因突变致先天性纯红细胞再生障碍性贫血(DBA)的临床特征,以期提高临床医师对该病的认识。方法对复旦大学附属儿科医院收治的1例RPL5基因突变致DBA患儿的临床资料和测序结果进行分析,并检索国内外文献,总结该病的临床特征。结果患儿,男,8岁。骨髓穿刺检查提示DBA,基因检测显示其RPL5基因杂合突变:c.657 C>G,p.Y219X,该突变类型为国内外首次报道。数据库共检索到该病47例,其临床特征显示(包括本研究1例,共48例):该病的男女比例发病率相同;亚洲地区患者数量低于欧美地区;散发为主;欧美地区外显子突变中,43.0%集中在Exon3;RPL5突变的DBA患者畸形率达81.3%(39/48例,不包括身材矮小),高于其他突变类型患者,其糖皮质激素治疗有效率为46.0%,低于DBA患者整体激素治疗反应率。结论chr1:93303142(c.657 C>G,p.Y219X)是RPL5基因的新突变,可导致DBA,拓展了该病的致病基因谱。RPL5突变患者致畸率与多重致畸率较高,且激素治疗反应率较低。Objective To explore the clinical characteristics of Diamond-Blackfan anemia(DBA)in children caused by RPL5 gene mutation,thus improving the understanding of the etiology of DBA.Methods The clinical data and sequencing results of a child with DBA caused by RPL5 gene mutation treated in the Children′s Hospital of Fudan University were analyzed.In addition,through literature review of reported DBA cases at domestic and home,summarized the clinical features of DBA.Results The patient was an 8-year-old male child.Bone marrow puncture examination of the child showed DBA,and a heterozygous mutation of RPL5 gene c.657C>G,p.Y219X was identified for the first time in the DBA case.A total of 47 cases of DBA were retrieved from the online databases plus the one reported in this study(48 cases in total),and their clinical features were summarized as follows:the incidence of DBA was similar in men and women.The number of DBA patients in Asia was lower than that in Europe and the United States.DBA was mainly a sporadic disease.Among the exon mutations in European and American cases of DBA,43.0%of them had mutations in Exon3.The malformation rate of DBA patients with RPL5 mutation was 81.3%(39/48 cases,excluding short stature cases),which was higher than that of patients with other mutation types.The response rate of glucocorticoid therapy for DBA was 46.0%,which was lower than that of the overall response rate.Conclusions chr1:93303142(c.657 C>G,p.Y219X)is a newly detected mutation of RPL5 gene in the DBA case,which expands the pathogenic gene spectrum of DBA.Patients with RPL5 mutation have higher rates of teratogenicity and multiple teratogenicity,and a lower response rate to hormone therapy.

关 键 词：先天性纯红细胞再生障碍性贫血 RPL5基因 基因突变 临床特征 

分 类 号：R725.5[医药卫生—儿科]