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[儿童贫血]

[Anemia in children].

作者信息

Muramatsu Hideki, Kojima Seiji

机构信息

Department of Pediatrics, Nagoya University Graduate School of Medicine.

出版信息

Nihon Rinsho. 2008 Mar;66(3):544-7.

Abstract

Anemia is one of the most common symptoms in children caused by numerous underlying diseases. In majority of patients, these diseases can be correctly diagnosed through physical examination, history taking, and routine laboratory tests. Bone marrow failure syndromes associated with several genetic diseases are rare causes of anemia in childhood. We reviewed the recent progress of molecular mechanisms in bone marrow failure syndromes, such as Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), and dyskeratosis congenita (DC), which are all predicted to involve defective ribosome synthesis. Delineation of the precise role of each gene product in ribosomal biogenesis and hematopoiesis may have both therapeutic and prognostic significance.

摘要

贫血是由众多潜在疾病引起的儿童最常见症状之一。在大多数患者中,这些疾病可通过体格检查、病史采集和常规实验室检查得到正确诊断。与几种遗传疾病相关的骨髓衰竭综合征是儿童贫血的罕见病因。我们回顾了骨髓衰竭综合征分子机制的最新进展,如施瓦赫曼-戴蒙德综合征(SDS)、先天性纯红细胞再生障碍性贫血(DBA)和先天性角化不良(DC),这些都预计涉及核糖体合成缺陷。阐明每个基因产物在核糖体生物发生和造血中的精确作用可能具有治疗和预后意义。

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