先天性纯红细胞再生障碍性贫血患儿临床表现及基因检测
发布时间：2018-11-19 09:48
【摘要】：目的探讨先天性纯红细胞再生障碍性贫血(DBA)的临床特点及其致病基因。方法回顾分析2例DBA患儿的临床资料以及基因检测结果,同时复习相关文献。结果两例患儿均为女性,分别为3月龄和4月龄;均以面色苍黄就诊。血常规红细胞偏低、血红蛋白低、网织红细胞计数低;血清铁及铁蛋白均升高;红细胞脆性实验未见异常。骨髓细胞学均提示髓象幼红细胞罕见。基因检测,例1的RPS19存在c.91CT(p.P31S)杂合突变,其父母未见突变,该突变为新发突变,经验证为致病基因;例2的RPL5基因存在c.472_473del缺失突变(p.K158fs),为已知致病基因。结论 DBA患儿多在出生早期发病,临床表现为红系缺乏,RPS19及RPL5基因突变较常见,相关基因检测有利于早期诊断;c.91CT(p.P 31 S)杂合突变为未见报道的新突变。
[Abstract]:Objective to investigate the clinical features and pathogenetic genes of congenital pure red blood cell aplastic anemia (DBA). Methods the clinical data and gene test results of 2 cases with DBA were retrospectively analyzed and the related literatures were reviewed. Results the two cases were all female, 3 months old and 4 months old respectively. RBC was low, hemoglobin was low, reticulocyte count was low, serum iron and ferritin were increased, and erythrocyte fragility test was not abnormal. Bone marrow cytology suggests that myeloid juvenile erythrocytes are rare. In case 1, c.91CT (p.P31S) heterozygosity was detected in RPS19, but no mutation was found in parents. The mutation was a new mutation and proved to be a pathogenic gene. In case 2, c.472_473del deletion mutation (p.K158fs) was found in the RPL5 gene, which was known to cause the disease. Conclusion most of the children with DBA develop at the early stage of birth, the clinical manifestation is lack of erythroid, the mutation of RPS19 and RPL5 genes is more common, the detection of related genes is helpful for early diagnosis, c.91CT (p.P31S) heterozygosity mutation is a new mutation that has not been reported.
【作者单位】： 单县海吉亚医院儿科;
【分类号】：R725.5
[Abstract]:Objective to investigate the clinical features and pathogenetic genes of congenital pure red blood cell aplastic anemia (DBA). Methods the clinical data and gene test results of 2 cases with DBA were retrospectively analyzed and the related literatures were reviewed. Results the two cases were all female, 3 months old and 4 months old respectively. RBC was low, hemoglobin was low, reticulocyte count was low, serum iron and ferritin were increased, and erythrocyte fragility test was not abnormal. Bone marrow cytology suggests that myeloid juvenile erythrocytes are rare. In case 1, c.91CT (p.P31S) heterozygosity was detected in RPS19, but no mutation was found in parents. The mutation was a new mutation and proved to be a pathogenic gene. In case 2, c.472_473del deletion mutation (p.K158fs) was found in the RPL5 gene, which was known to cause the disease. Conclusion most of the children with DBA develop at the early stage of birth, the clinical manifestation is lack of erythroid, the mutation of RPS19 and RPL5 genes is more common, the detection of related genes is helpful for early diagnosis, c.91CT (p.P31S) heterozygosity mutation is a new mutation that has not been reported.
【作者单位】： 单县海吉亚医院儿科;
【分类号】：R725.5
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