先天性纯红细胞再生障碍性贫血的临床及基因特点

发布时间：2018-05-07 14:32

本文选题：先天性纯红细胞再生障碍性贫血 + 临床特点　；参考：《中国当代儿科杂志》2017年02期

【摘要】：目的探讨先天性纯红细胞再生障碍性贫血(DBA)的临床及致病基因特点。方法回顾性分析2例DBA患儿的临床及致病基因特点,并进行文献复习。结果 2例患者(2~3个月的婴儿)均呈慢性重度正细胞正色素贫血,不伴白细胞及血小板计数异常,网织红细胞计数均降低,血清铁、血清铁蛋白轻度升高,骨髓细胞学提示红细胞比例明显降低、幼红减少或缺如,1例DBA致病基因检测发现已报道的RPS19基因致病性杂合突变:c.212GA(p.Gly71Glu),其父母未见突变;另1患儿检测到新的RPL5基因杂合突变:c.740TC(p.I247L),其父母未见突变,生物信息学分析该突变可能致病。结论 DBA患儿多在婴儿早期发病,以红系缺乏为表现,编码核糖体亚基蛋白的基因突变为常见病因,进行分子检测有利于DBA早期诊断。
[Abstract]:Objective to investigate the clinical and genetic characteristics of congenital pure red blood cell aplastic anemia (DBA). Methods the clinical and pathogenic gene characteristics of 2 children with DBA were analyzed retrospectively and the literature was reviewed. Results two infants with 2 ~ 3 months of age presented with chronic positive cytochrome anemia without abnormal leukocyte and platelet count, reticulocyte count decreased, serum iron and serum ferritin increased slightly. Bone marrow cytology showed that the proportion of red blood cells was significantly decreased, and that one case of DBA pathogenicity gene was found to be absent or decreased. The reported pathogenicity heterozygosity of RPS19 gene was found in 10% c. 212GAp.Gly71 Gluus, but no mutation was found in parents. In the other case, a new heterozygosity of RPL5 gene was detected. The mutation was not found in the parents. The mutation may be pathogenic by bioinformatics. Conclusion most of the children with DBA develop at the early stage of infancy, which is characterized by erythroid deficiency and mutation of gene encoding ribosomal subunit protein. Molecular detection is beneficial to the early diagnosis of DBA.
【作者单位】：武汉大学人民医院儿科;
【分类号】：R725.5

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