新生儿重症监护病房遗传代谢病分析

目的明确新生儿重症监护病房（NICU）遗传代谢病患者临床特点以及对其应采取的措施。方法留取从2008年11月1日到2009年10月31日,29例遗传代谢病高危新生儿的干血滤纸片,经含氨基酸、酰基肉碱内标的甲醇萃取,盐酸正丁醇衍生后,进行液相串联质谱分析。结果29例高危儿中检测出8例（27.6%）。甲基丙二酸血症患者3例,酪氨酸血症患者2例,枫糖尿病患者1例,甲基丙二酸血症合并酪氨酸血症患者2例。4例患者需要机械通气,辅助呼吸,6例患者出现严重代谢性酸中毒。住院周期的中位值为3天（0-7天）,4例（50%）患者死亡。结论遗传代谢病在某些NICUs还是比较常见的,而且入院前多没有明确诊断。入院患者多需要侵入性（如机械通气）辅助治疗,住院周期较短,病死率较高。这些病人在诊断和治疗方面给临床医生提出了挑战。

Analysis of inborn errors of metabolism in neonate intensive care unit

Objective:To ascertain the clinical symptoms and the resources required to care for these patients who suspected or confirmed diagnosis of inborn errors of metabolism.Methods:The dry blood filter papers were tested by LC-MS/MS among 29 neonates suspected to be with inborn errors of metabolism between December 2008 and October 2009.Before testing the filter papers should be punched and extracted into methanol solution with stable isotope labeled internal standards,then derivatized with butanolic-HCl.Results:...