Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature
Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature
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伴有 RPS19 突变的 Diamond-Blackfan 贫血：病例报告和已发表文献综述
DOI：
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发表时间：
2020
影响因子：
0.8
通讯作者：
M. Haque
中科院分区：
文献类型：
--
作者：
Dilshad Jahan;Md. Maruf Al Hasan;M. Haque
前言：钻石-黑粉贫血(DBA)是一种罕见的遗传性骨髓衰竭综合征，以红细胞衰竭、先天异常和癌症易感性为特征。它可由RPS19基因突变引起(25%的病例)。方法：报告1例10个月大的男婴，2个月后出现逐渐加重的虚弱和苍白病史。结果：根据外周血象、骨髓活检报告和RPS19基因突变分析，诊断为DBA。他的父亲以经济困难为由拒绝了造血干细胞移植。患者接受强的松龙治疗，同时口服叶酸和铁补充剂。结论：治疗1个月后，Hb由6.7 g/dL升至9.8g/dL。
Introduction: Diamond–Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the RPS19 gene (25% of the cases). Methods: This case report describes a 10-month-old boy who presented with 2 months’ history of gradually increasing weakness and pallor. Results: The patient was diagnosed as a case of DBA based on peripheral blood finding, bone marrow aspiration with trephine biopsy reports, and genetic mutation analysis of the RPS19 gene. His father refused hematopoietic stem cell transplantation for financial constraints. Patient received prednisolone therapy with oral folic acid and iron supplements. Conclusion: Hemoglobin raised from 6.7 to 9.8g/dL after 1 month of therapeutic intervention.
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影响因子：
1.7
作者：
Da Costa, L.;Moniz, H.;Simansour, M.;Tchernia, G.;Mohandas, N.;Leblanc, T.
通讯作者：
Leblanc, T.
影响因子：
9.8
作者：
Doherty, Leana;Sheen, Mee Rie;Gazda, Hanna T.
通讯作者：
Gazda, Hanna T.
影响因子：
3.6
作者：
Lipton, Jeffrey M.
通讯作者：
Lipton, Jeffrey M.
DOI：
10.1016/j.hoc.2009.01.004
发表时间：
2009-04
期刊：
Hematology/oncology clinics of North America
影响因子：
--
作者：
Lipton JM;Ellis SR
通讯作者：
Ellis SR
影响因子：
20.3
作者：
Vlachos, Adrianna;Rosenberg, Philip S.;Lipton, Jeffrey M.
通讯作者：
Lipton, Jeffrey M.