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廖雪莲,蒋莎义,蒋慧,等.纯红细胞再生障碍性贫血临床特点与RPS19、RPL5、RPL11基因突变之多中心研究[J].同济大学学报（医学版）,2015,36(6):36-39, 45. [点击复制]
LIAO Xue-lian,JIANG Sha-yi,JIANG Hui,et al.Clinical characteristics and RPS19, RPL5, RPL11 gene mutation of pure red cell aplasia[J].同济大学学报（医学版）,2015,36(6):36-39, 45. [点击复制]

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纯红细胞再生障碍性贫血临床特点与RPS19、RPL5、RPL11基因突变之多中心研究
廖雪莲,蒋莎义,蒋慧,何海龙,陈力军,谢晓恬
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(上海交通大学附属儿童医院血液/肿瘤科,上海 200062;苏州儿童医院血液科,江苏苏州 215001;山东省儿童医院血液科,山东济南 250021;同济大学附属同济医院儿科,上海 200065)

摘要:

目的通过对纯红细胞再生障碍性贫血的临床回顾与RPS19、RPL5、RPL11基因突变的检测,分析比较先天性纯红细胞再生障碍性贫血与获得性纯红细胞再生障碍性贫血的临床异同和RPS19、RPL5和RPL11基因突变情况。方法 20例来自多中心的儿童纯红细胞再生障碍性贫血,先天性14例,获得性6例,分析临床资料并比较两组发病年龄、外周血细胞计数和对治疗的反应。Sanger双脱氧链终止法对患儿RPS19、RPL5和RPL11基因测序。结果先天性纯红细胞再生障碍性贫血42.8%伴有先天畸形,与获得性纯红细胞再生障碍性贫血比较,网织红细胞较低(P<0.05),外周血WBC、HGB和PLT无差异。激素治疗有效率分别是: 先天性78.6%、获得性100%(P<0.05)。先天性纯红再障7.1%检出RPS19点突变,获得性纯红再障未发现RPS19突变。先天性纯红再障和获得性纯红再障RPL5和RPL11基因均未发现突变。结论先天性纯红再障42.8%合并畸形,网织红细胞均低于获得性纯红再障,RPS19突变率低于国外文献报道。RPS19突变可能与先天性纯红再障有关。获得性纯红再障发病与RPS19、RPL5和RPL11基因异常可能无关。

关键词: 纯红细胞再生障碍性贫血核糖体蛋白基因基因突变

DOI：10.16118/j.1008-0392.2015.06.007

投稿时间：2015-08-24

基金项目:上海交通大学自然科学基金(13XJ10069)

Clinical characteristics and RPS19, RPL5, RPL11 gene mutation of pure red cell aplasia

LIAO Xue-lian,JIANG Sha-yi,JIANG Hui,HE Hai-long,CHEN Li-jun,XIE Xiao-tian

(Dept.of Hematology/Oncology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai 200062, China;Dept.of Hematology, Suzhou Children's Hospital Suzhou 215001, Jiangsu Province, China;Dept.of Hematology, Shandong Children's Hospital Jinan 250021, Shandong Province, China;Dept.of Paediatrics, Tongji Hospital, Tongji University, Shanghai 200065, China)

Abstract:

Objective To investigate clinical features and RPS19, RPL5 and RPL11 gene mutations in patients with acquired pure red cell aplasia(PRCA) and congenital PRCA(Diamond-Blackfan anemia, DBA). Methods Twenty children with PRCA from multiple centers were enrolled, including 14 DBA and 6 acquired PRCA. The age of disease onset, peripheral blood counts, and responses to treatment were compared between these two groups. RPS19, RPL5 and RPL11 gene sequences were determined using the Sanger dideoxy chain termination method. ResultsSix out of 14 DBA patients(42.8%) presented combined congenital malformation. Compared with the acquired PRCA patients, DBA patients displayed a lower number of reticulocytes(P<0.05), no differences in peripheral white blood cell(WBC), hemoglobin(HB), and platelet(PLT) counts. The efficacy of corticosteroids treatment for DBA was 78.6%, while that for acquired PRCA was 100.0%(P>0.05). RPS19 point mutations were detected in 1 DBA patient, and not in acquired PRCA patients. RPL5 and RPL11 point mutations were not detected in DBA or acquired PRCA. Conclusion Patients with DBA have lower reticulocyte counts than acquired PRCA patients. DBA might be associated with RPS19 gene mutation.

Key words: Diamond-Blackfan Anemia(DBA) Pure Red Cell Aplasia(PRCA) Gene Mutation RPS19 RPL5 RPL11