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林书祥;舒剑波;王朝;潘蕊;孟英韬;张春花;张碧丽;王丹;张玉琴
中国当代儿科杂志, 2017, Volume: 19, Issue: 12Journal Article
目的探讨尿气相色谱-质谱法在遗传代谢病(IMD)高危患儿筛查中的应用价值,以及确诊IMD的疾病谱和确诊IMD患儿的临床特点,为临床诊断和治疗提供参考。方法回顾性分析2012年2月至2016年12月在天津市儿童医院就诊的15 851例IMD高危患儿且接受了尿气相色谱-质谱法检测的患儿的临床资料。结果 15 851例IMD高危患儿中,检出代谢异常5 793例,占36.55%。确诊为IMD 117例(0.74%),其中甲基丙二酸血症77例(65.8%)。新生儿期IMD确诊患儿的临床表现主要为黄疸、代谢性酸中毒、肌张力异常、喂养困难、反应差、嗜睡或昏迷等,非新生儿期IMD确诊患儿的临床表现主要为精神运动发育落后、代谢性酸中毒、抽搐、反复呕吐、贫血等。结论气相色谱-质谱法是对IMD高危患儿筛查的有效方法;甲基丙二酸血症是最常见的IMD; 新生儿期和非新生儿期IMD确诊患儿的临床表现有不同。
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