干血斑用于新生儿遗传代谢病筛查的方法学进展  

Application of dried blood spot in newborn screening for inherited metabolic diseases

作　　者：段义飞[1] 崔亚利[1] 江咏梅[1] 

机构地区：[1]四川大学华西第二医院检验科,成都610041

出　　处：《中华检验医学杂志》2015年第4期220-222,共3页Chinese Journal of Laboratory Medicine

摘　　要：新生儿遗传代谢病是一类由于单基因缺陷引起代谢途径阻断而导致一系列临床症状的疾病。新生儿足跟血干血斑制备简便、安全、稳定性好，在遗传代谢病筛查不同方法学中均具有较强实用性。随着筛查技术的发展，可筛查的疾病种类不断增多，串联质谱技术以及分子生物学技术有效推动了新生儿遗传代谢病筛查的自动化和筛查效率。遗传代谢病对新生儿危害极大，不仅可引起各个系统器官损伤，甚至导致死亡，早期诊断对该病预后意义重大。Neonatal inherited metabolic diseases are a group of metabolic disorders caused by singe gene defect to cause a series of clinical symptoms. Neonatal dried blood spots have the advantages of simple preparation, safety, good stability, and show strong practicability in different screening methods for inherited metabolic diseases. With the development of screening methods, more and more diseases could be diagnosed by screening. The emergence of tandem mass spectrometry and molecular biological techniques promote the newborn screening and automation for inherited metabolic disease effectively. Inherited metabolic diseases induce great harm to the newborn, which could cause not only system organs damage, but also lead to death. Therefore, early screening is important for patients＇ prognosis.

关 键 词：代谢缺陷 先天性 干燥血斑检测 新生儿筛查 串联质谱法 

分 类 号：R722.1[医药卫生—儿科]