Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.
复制标题
由于核糖体蛋白 S19 错义突变导致严重的 Diamond-Blackfan 贫血。
DOI：
10.1111/ped.13018
复制
发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Ito E.
中科院分区：
文献类型：
--
作者：
Ozono S;Mitsuo M;Noguchi M;Nakagawa S;Ueda K;Inada H;Ohga S;Ito E.
钻石-布莱克凡贫血(DBA)是一种罕见的先天性疾病，以纯红细胞再生障碍性贫血为特征，约70%的患者携带核糖体蛋白(RP)基因突变。在这里，我们报告了一例患有DBA的男婴，他在出生后58天出现贫血危象(血红蛋白浓度为1.5微克/分升)。入院时，婴儿脸色苍白，呼吸急促，但在重症监护下康复，包括红细胞输注和强的松龙。根据DBA的临床诊断，婴儿的父亲患有环孢素A依赖型贫血。在婴儿6个月大时对RP基因进行分析，发现婴儿和父亲都有RPS19突变，但母亲没有。因此，对于有遗传性骨髓衰竭综合征病史的家庭，建议进行遗传背景调查和早期新生儿健康检查。
Diamond–Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine‐A‐dependent anemia. On analysis of RP genes when the infant was 6 months old, both the infant and the father, but not the mother, were found to harbor a mutation ofRPS19(c.167G > C, p. R56P). Therefore, genetic background search and early neonatal health check‐ups are recommended for families with a history of inherited bone marrow failure syndromes.