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遗传性骨髓衰竭综合征的研究进展

温贤浩 宪莹 于洁 徐酉华

温贤浩, 宪莹, 于洁, 徐酉华. 遗传性骨髓衰竭综合征的研究进展[J]. 分子影像学杂志, 2017, 40(1): 92-96. doi: 10.3969/j.issn.1674-4500.2017.01.27
引用本文: 温贤浩, 宪莹, 于洁, 徐酉华. 遗传性骨髓衰竭综合征的研究进展[J]. 分子影像学杂志, 2017, 40(1): 92-96. doi: 10.3969/j.issn.1674-4500.2017.01.27

遗传性骨髓衰竭综合征的研究进展

doi: 10.3969/j.issn.1674-4500.2017.01.27
基金项目: 

重庆市卫生局科研项目 2012-2-107

详细信息
    作者简介:

    温贤浩,硕士,副主任医师,E-mail: 2210779430@qq.com

    通讯作者:

    宪 莹,硕士,副主任医师,E-mail: 1989669917@qq.com

  • 摘要: 遗传性骨髓衰竭综合征是一组遗传性疾病,虽然它们具有共同的临床特征,但它们也有各自的临床表现,且临床表现多样化,往往容易导致临床误诊或漏诊。虽然这组疾病的临床表现多样化,遗传学改变及基因异常往往是其根源所在,故一旦考虑这组疾病,建议行相关遗传学及基因检测,如果有条件可同时辅助其他检查手段如端粒酶长度等。虽然这组疾病的发病率不高,但随着下一代基因测序检测手段的应用,越来越多的致病基因被发现,也为准确诊断疾病提供了有利帮助。造血干细胞移植往往是根治这组疾病的唯一手段,而造血干细胞移植也有其局限性及治疗相关的风险,需根据病情而定。本文将从疾病的临床特征、遗传学特征、诊断、治疗及预后等方面对这一组疾病进行综述,以便临床医师能更加深入认识这组疾病,并及时进行诊断及治疗。

     

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  • 收稿日期:  2016-06-01
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