Center for Clinical Laboratory Development, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Indian J Pediatr. 2012 Apr;79(4):494-500. doi: 10.1007/s12098-011-0464-3. Epub 2011 Jun 10.
To estimate the incidence of Inborn errors of metobolism (IEM) in Neonatal intensive care unit (NICU) using tandem mass spectrometry and to determine the impact that these disorders have on NICU resources.
During the period of study, 724 (81% eligible cases) dried blood filter-paper samples were collected from a NICU. The samples were analysed using tandem mass spectrometry. The diagnosis was further confirmed through clinical symptoms and by gas chromatography-mass spectrometry. The results were also confirmed by clinical follow-up of all positive patients in an overall interval of 1 year. The mean observation period was 11 months per neonate.
In total, 22 cases were screen positive and 8 cases of inborn errors of metabolism were detected. The incidence of IEM in the population of patients admitted to the authors' NICU was 1.1%. The most common inborn error found was methylmalonic acidemia (3 cases, 37.5%), and all of the cases needed aggressive treatment and invasive mechanical ventilation. There were two cases of Tyrosinemia type 1, one case each of Maple Syrup Urine Disease, Propionic Acidemia, and Multiple Acyl-CoA dehydrogenase deficiency (MADD). Five of the eight patients required invasive mechanical ventilation. The median length of NICU stay was 3 days (1~7 days) and early therapeutic intervention was effective for four of them and other four patients (50%) died.
The incidence of IEM in NICU was 1.1%, indicating an underestimation of the incidence of metabolic disorders prior to implementing screening. Most patients with IEM in the NICU required invasive mechanical ventilation and the mortality was increased due to underlying IEM.
使用串联质谱法估计新生儿重症监护病房（NICU）中先天性代谢缺陷（IEM）的发病率，并确定这些疾病对 NICU 资源的影响。
在研究期间，从 NICU 收集了 724 份（81%符合条件的病例）干血滤纸片样本。使用串联质谱法对样本进行分析。通过临床症状和气相色谱-质谱法进一步确认诊断。所有阳性患者的结果在 1 年的总间隔内通过临床随访进行确认。每位新生儿的平均观察期为 11 个月。
共有 22 例筛查阳性，8 例发现先天性代谢缺陷。作者所在 NICU 住院患者的 IEM 发病率为 1.1%。最常见的先天性代谢缺陷是甲基丙二酸血症（3 例，37.5%），所有病例均需积极治疗和侵入性机械通气。酪氨酸血症 1 型 2 例，枫糖尿症、丙酸血症和多发性酰基辅酶 A 脱氢酶缺乏症（MADD）各 1 例。8 例患者中有 5 例需要侵入性机械通气。NICU 住院时间中位数为 3 天（1~7 天），其中 4 例早期治疗干预有效，4 例（50%）患者死亡。
NICU 中 IEM 的发病率为 1.1%，表明在实施筛查之前，代谢紊乱的发病率被低估了。NICU 中大多数 IEM 患者需要侵入性机械通气，由于潜在的 IEM，死亡率增加。
