对遗传性骨髓衰竭综合征诊治现状的思考

发育医学电子杂志

2014, Vol. 2

Issue (3): 129-131

临床遗传专题笔谈

对遗传性骨髓衰竭综合征诊治现状的思考

竺晓凡

中国医学科学院血液病医院血液学研究所，天津　 300020

Thinking on the status of diagnosis and treatment of genetic bone marrow failure syndrome

ZHU Xiao-fan

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摘要骨髓衰竭综合征（bone marrow failuresyndrome，BMFS）是成熟红细胞、粒细胞、血小板在骨髓中的有效生成减少而引起的外周血一系、两系血细胞或全血细胞减少的一组疾病的总称^［1-3］。欧洲和北美的年发病率为2/10 万左右，来自美国一些小系列研究及欧洲早期的调查结果略高于此。亚洲的年发病率约（0.4~7）/10 万，我国尚无少年儿童BMFS 发病率的确切统计数据。
儿童BMFS 包括获得性骨髓衰竭（acquired bonemarrow failure syndromes， ABMF）和遗传性骨髓衰竭（inherited bone marrow failure syndromes， IBMF）两大类。ABMF 占BMFS 的80%，我国已有相关的诊疗建议^［4］，但对IBMF 的诊治尚存不足。根据
文献检索及本人在临床工作中遇到的问题，对我国IBMF 诊治现状的思考如下。

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关键词: 骨髓衰竭综合征')" href="#">骨髓衰竭综合征遗传性骨髓衰竭综合征')" href="#">遗传性骨髓衰竭综合征戴蒙德-布莱克凡贫血')" href="#">戴蒙德-布莱克凡贫血

收稿日期: 2014-05-04 出版日期: 2014-07-30 发布日期: 2019-09-05 期的出版日期: 2014-07-30

引用本文:

竺晓凡. 对遗传性骨髓衰竭综合征诊治现状的思考[J]. 发育医学电子杂志, 2014, 2(3): 129-131.
ZHU Xiao-fan. Thinking on the status of diagnosis and treatment of genetic bone marrow failure syndrome. Journal of Developmental Medicine(Electronic Version), 2014, 2(3): 129-131.

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