Diamond-Blackfan贫血患儿的临床分析  

Clinical Analysis of Diamond-Blackfan Anemia

作　　者：刘天峰[1] 万扬[1] 陈玉梅[1] 阮敏[1] 竺晓凡[1] 

机构地区：[1]中国医学科学院北京协和医学院血液病医院(血液学研究所)儿童血液病诊疗中心,天津300020

出　　处：《国际输血及血液学杂志》2014年第5期406-411,共6页International Journal of Blood Transfusion and Hematology

基　　金：卫生部部属（管）医院学科重点项目（2010-2012）;天津市自然科学基金项目（IOJCYBJC12600）;2013年北京协和医学院学生创新项目（3332013022）

摘　　要：目的 分析Diamond-Black fan贫血（DBA）患儿的临床特征、诊断方法及治疗方案.方法 选取2003年7月至2013年7月于中国医学科学院北京协和医学院血液病医院（血液学研究所）儿童血液病诊疗中心确诊为DBA的61例患儿作为研究对象.对DBA患儿的临床资料进行回顾性分析.本研究遵循的程序符合中国医学科学院北京协和医学院血液病医院（血液学研究所）人体试验委员会所制定的伦理学标准,得到该委员会批准,征得受试对象监护人的知情同意,并与之签署临床研究知情同意书.通过本院儿童血液病诊疗中心采集61例DBA患儿的血液标本;对其中26例患儿采用体外造血祖细胞集落形成细胞（CFC）实验检测其红系细胞集落形成单位（CFU-E）,红系细胞爆式集落形成单位（BFU-E）;对其中18例患儿进行9种核糖体蛋白基因全外显子捕获测序;并对BFU-E,CFU-E减低与无减低患儿糖皮质激素反应率的比较,及核糖体蛋白基因突变呈阳性与突变呈阴性患儿糖皮质激素反应率的比较进行统计学分析.结果 ①61例DBA患儿中位发病年龄为3个月（0～39个月）,15例（24.5％）患儿伴有躯体畸形.②61例DBA患儿初诊时,中位血红蛋白（Hb）水平为49 g/L（15～80 g/L）,中位红细胞计数为2.15＆#215;1012/L [（1.15～4.30）x10^12/L],平均红细胞体积（MCV）中位值为87.3 fl（69.0～105.0 fl）;其中,21例DBA患儿行红细胞生成素（EPO）水平检测,90.5％（19/21）患儿EPO水平升高;42例DBA患儿行骨髓形态学检查,中位红系细胞比例为2％（0～17.5％）;26例患儿行体外造血祖细胞CFC实验,50.0％（13/26）患儿B-FUE与C-FUE减低,23.0％（6/26）患儿为正常,26.9％（7/26）患儿为增高.③18例DBA患儿行9种核糖体蛋白基因全外显子捕获测序,50.0％（9/18）患儿突变呈阳性,分别为RPS19基因突变为5例（27.8％）,RPL11、RPL5、RPL35a及RPS7基因突变各为1例（5.6％）.44.4�Objective To explore the clinical characteristics,diagnosis and treatment of DiamondBlacken Anemia （DBA）.Methods From July 2003 to July 2013,a total of 61 children diagnosed as DBA in Diagnosis and Treatment Center of Pediatric Blood Diseases,Institute of Hematology and Blood Diseases Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences were collected into this study.Clinical data of DBA children were retrospectively analyzed.The study protocol was approved by the Ethical Review Board of Investigation in Human at Institute of Hematology and Blood Diseases Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences.Informed consent was obtained from all participants＇ parents.Blood specimens from 61 children were collected at Diagnosis and Treatment Center of Pediatric Blood Diseases.Erythroid colony forming unit （CFU-E） and erythroid burst forming unit （BFU-E） were counted by colony-forming cell （CFC） test in 26 children.Eighteen children received targeted exon capture sequencing of 9 ribosome protein genes.Response rates to glucocorticoid were compared between children with low BFU-E/CFU-E and children with non-low BFU-E/CFU-E,and were compared between children with positive ribosome protein genes mutation and children with negative mutation.Results ① Median age of onset of 61 children was 3 months old （0～39 months old）.Fifteen（24.5%）cases had physical malformation.② Median hemoglobin （Hb） level of 61 children at first visit was 49 g/L （15～80 g/L）.Median red blood cell count was 2.15 ＆#215; 1012/L.Median mean corpuscular volume （MCV） was 87.3 fl （69.0～105.0 fl）.Erythrogenin （EPO） level increased in 90.5% （19/21） children.Median bone marrow erythroid proportion was 2% （0～ 17.5%） in 42 children who got bone marrow puncture.50.0% （13/26） children had low BFU-E and CFU-E,while 23.0% （6/26） were normal,and 26.9% （7/26） had high BFU-E and CFU-E.③ Eighteen children received targeted exon capture sequencin

关 键 词：红系细胞 儿童 核糖体蛋白质类 

分 类 号：R725.5[医药卫生—儿科]