25例儿童先天性纯红细胞再生障碍性贫血的临床分析  

Clinical analysis of 25 children with congenital dyserythropoietic anemia

作　　者：周歌 魏林林[1] 苏淑芳[1] 李白[1] 刘玉峰[1] Zhou Ge;Wei Linlin;Su Shufang;Li Bai;Liu Yufeng(Department of Pediatric Hematology and Oncology,First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan Province,China)

机构地区：[1]郑州大学第一附属医院小儿血液与肿瘤病区,450052

出　　处：《国际输血及血液学杂志》2020年第3期251-256,共6页International Journal of Blood Transfusion and Hematology

基　　金：河南省高等学校重点科研项目(18A320074)。

摘　　要：目的分析先天性纯红细胞再生障碍性贫血(PRCA),即Diamond-Blackfan贫血(DBA)患儿的临床表现、实验室检查、基因检测结果、疗效及生长发育评估结果,为其诊断与治疗提供更多的临床思路。方法选择2011年4月至2019年2月于郑州大学第一附属医院诊治的25例DBA患儿为研究对象。其中男性患儿为13例,女性为12例,中位发病年龄为3个月。按照治疗方法不同,将其分为激素治疗组(使用泼尼松治疗,n=18)和非激素治疗组(使用对症支持治疗,n=7)。采用回顾性研究方法,收集患儿一般临床资料、实验室检查结果、疗效、生长发育评估结果等。2组间缓解率等比较,采用Fisher确切概率法。不同疗程、年龄患儿身高、体重百分位比较,采用Kruskal-Wallis秩和检验。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。结果①本研究25例DBA患儿的中位发病年龄为3个月,男、女性别构成比为1.08∶1。伴先天性疾病患儿为5例(20%),其中4例患儿合并≥2种先天畸形。②血常规结果显示,患儿血红蛋白(Hb)值均降低,64%(16/25)患儿网织红细胞计数减少。骨髓细胞学检查显示,患儿均有核细胞增生活跃,红系增生低下。12例行Hb电泳患儿中,胎儿血红蛋白(HbF)增高患儿为2例。13例行基因检测患儿中,4例患儿DBA相关基因突变,包括RPS19基因突变者3例和RPL5基因突变者1例。③激素治疗组和非激素治疗组患儿缓解率分别为88.9%(16/18)和42.9%(3/7),2组比较,差异有统计学意义(P=0.032)。④20例DBA患儿生长发育评估结果显示,短疗程激素治疗者(激素治疗时间<6个月,n=7)、长疗程激素治疗者(激素治疗时间≥6个月,n=8)与未使用激素治疗者(n=5)在治疗远期体重、身高百分位数的中位数分别比较,差异均无统计学意义(χ2=2.456,P=0.293;χ2=0.460,P=0.795);小年龄激素治疗者(接受激素治疗时患儿年龄<12个月,n=8),大年龄激素治�Objective To analyze the clinical manifestations,laboratory examination and gene detection results,therapeutic effects and growth evaluation results of children with congenital pure red cell aplastic anemia,also known as Diamond-Blackfan anemia(DBA),and to provide more clinical ideas for its diagnosis and treatment.Methods From April 2011 to February 2019,a total of 25 children with DBA in the First Affiliated Hospital of Zhengzhou University were selected as the study objects.According to different treatment methods,they were divided into hormone treatment group(prednisone treatment,n=18)and non hormone treatment group(symptomatic support treatment,n=7).The general clinical data,laboratory examination results,therapeutic effect,growth and development evaluation results were recorded by retrospective research method.Fisher′s exact test was used to compare the remission rate between two groups.Kruskal-Wallis rank test was used to compare the percentiles of height and weight of children with different treatment courses and ages.The procedure followed in this study was in accordance with the World Medical Association Declaration of Helsinki revised in 2013.Results①The median age of 25 DBA children in this study was 3 months,and the ratio of male to female was 1.08∶1.There were 5 children(20%)with congenital diseases,4 of them were complicated with 2 or more congenital malformations.②The results of blood routine examination showed that hemoglobin(Hb)value decreased in all children and reticulocyte count decreased in 64%(16/25)children.Bone marrow cytology showed active proliferation of nucleated cells and hypoplasia of erythrocytes in all children.Among the 12 children with Hb electrophoresis,2 cases had high fetal Hb(HbF).Among the 13 children with gene detection,4 cases had DBA related gene mutations,including 3 cases with RPS19 gene mutation and 1 cases with RPl5 gene mutation.③The remission rate of hormone treated group and non hormone treated group was 88.9%(16/18)and 42.9%(3/7)respectively,the differe

关 键 词：贫血 再生不良 先天性 贫血 Diamond-Blackfan 突变 糖皮质激素类 儿童发育 

分 类 号：R725.5[医药卫生—儿科]