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遗传性骨髓衰竭综合征的研究进展 被引量：3

Progress of inherited bone marrow failure syndromes
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摘要 遗传性骨髓衰竭综合征是一组先天性疾病。其发病机制尚不完全明确，目前已发现部分致病基因，而且初步掌握了其诊断和治疗方法。此类疾病的诊断多依据典型的临床表现及相关实验室检查。随着基因检测的开展，致病基因检测正成为确诊该类疾病的主要方法。目前造血干细胞移植是唯一可能治愈本疾病的方法，支持和对症治疗在延缓和改善病情方面至关重要，基因治疗尚不成熟，其他治疗手段均在不断探索中。 Inherited bone marrow failure syndromes are a group of congenital diseases. Their pathogenesis are not entirely clear. The causative genes have been found in part of the diseases, and we have preliminarily mastered their diagnosis and treatment. The diagnosis is mostly based on typical clinical manifestations and relat- ed laboratory tests. Along with the genetic testing developmenff,genetic testing has become the main method to diagnose IBMFS. Hematopoietic stem cell transplantation is currently the only way to cure these diseases. Sup- port and symptomatic treatment also play an important role in terms of delaying and improving the condition. Gene therapy is still not mature, and other treatments are constantly being explored.
作者 王军博 王颖超
机构地区 郑州大学第一附属医院儿科
出处 《国际儿科学杂志》 2016年第4期279-283,共5页 International Journal of Pediatrics
关键词 骨髓衰竭 遗传 基因 移植 Bone marrow failure Inherited Gene Transplantation
分类号 R551.3 [医药卫生—血液循环系统疾病]
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参考文献30

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国际儿科学杂志
2016年 第4期

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