达喀尔艾伯特罗耶国家儿童医院一名婴儿的黑钻贫血及文献回顾

G. Diagne, P. M. Faye, A. Kane, A. Mbaye, M. Fattah, A. M. Coundoul, S. Sow, K. Bop, A. Sow, Ly Id, I. Ba, Ousseynou Ndiaye
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引用次数: 0

摘要

黑扇菱形贫血是唯一已知的先天性红细胞减少症。随着相关基因的发现,它已成为核糖体疾病的领导者,这为红细胞生成的大量基础研究开辟了道路。它的定义是严重的红细胞减少,在单细胞骨髓中红细胞前体少于5%。Blackfan Diamon's贫血早在2岁前就表现出来,在非洲发病率较低,我们报告一例3个月大的RPS19突变婴儿早发。由于无法获得基因检测,诊断往往仍然很困难。皮质类固醇治疗两周没有明显改善。病人目前正在接受常规输血,同时等待骨髓移植。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Anemia of Blacfan Diamon in an infant at the Albert Royer National Children's Hospital in Dakar and Review of the Literature
Blackfan Diamon anemia is the only known congenital erythroblastopenia. Following the discovery of the genes involved, it has become the leader in ribosomal diseases and this has opened the way to a great deal of basic research into erythropoiesis. It is defined by severe erythroblastopenia with less than five percent of erythroid precursors in a single-cell marrow. Blackfan Diamon's anemia manifests early before the age of two and its incidence is low in Africa, we report a case with early onset in a 03-month-old infant with RPS19 mutation. The diagnosis often remains difficult due to the unavailability of genetic tests. Corticosteroid therapy was prescribed for two weeks without significant improvement. The patient is currently on a transfusion routine while awaiting a bone marrow transplant.
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