Raghuveer Talkad S, Garg Uttam, Graf William D
Division of Neonatology, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.
Am Fam Physician. 2006 Jun 1;73(11):1981-90.
Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients.
医学技术的最新创新改变了美国的新生儿筛查项目。串联质谱技术的广泛应用有助于识别更多的先天性代谢缺陷。当新生儿筛查检测到先天性代谢缺陷的可能性时，州立实验室和参考实验室通常首先会联系初级保健医生。医生必须立即采取措施对婴儿进行评估，并且应该能够联系到区域代谢紊乱专科中心。在初始评估期间治疗患者并不需要详细了解生化途径。即使尚未明确具体的潜在代谢紊乱，非特异性代谢异常（如低血糖、代谢性酸中毒、高氨血症）也必须紧急治疗。同样，医生仍然必须识别串联质谱技术无法可靠检测到的先天性代谢缺陷，并知道何时进行额外的诊断测试。先天性代谢缺陷的早期和特异性诊断以及及时开始适当的治疗仍然是这些患者预后的最佳决定因素。
