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先天性纯红细胞再生障碍性贫血的临床及基因特点
Clinical features and pathogenic gene detection of Diamond-Blackfan anemia
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.212G > A （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.740T > C （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。
Objective To investigate the clinical features of Diamond-Blackfan anemia (DBA) and related pathogenic genes. Methods A retrospective analysis was performed for the clinical data of two children with DBA, and related literature was reviewed. Results The two children with DBA (2-3 months old) manifested with severe normochromic normocytic anemia, decreased reticulocyte count, and increased serum iron and serum ferritin. Normal white blood cell and platelet counts were noted in the two patients. Bone marrow examination showed a decreased percentage of erythrocytes and rare normoblasts in the two patients. Gene screening showed a reported pathogenic heterozygous mutation in RPS19 gene, c.212G >A (p. Gly71Glu), in one patient, and there were no mutations in his parents. In the other patient, gene screening showed a heterozygous mutation in RPL5 gene, c.740T > C (p.I247L), which had not been reported in literature, and there were no mutations in her parents. A bioinformatic analysis showed that this might be a pathogenic mutation. Conclusions The onset age of DBA is early infancy in most children, with a manifestation of erythroid deficiency. RPS19 and RPL5 gene mutations are common causes of this disease. Molecular detection helps with the early diagnosis of DBA.
先天性纯红细胞再生障碍性贫血 / 临床特点 / RPS19基因 / RPL5基因 / 突变 / 儿童
Diamond-Blackfan anemia / Clinical feature / RPS19 gene / RPL5 gene / Mutation / Child
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