Pediatrix-Obstetrix Center for Research, Education and Quality, Sunrise, Florida
Pediatrix-Obstetrix Center for Research, Education and Quality, Sunrise, Florida.
Pediatrics. 2014 Jul;134(1):e37-46. doi: 10.1542/peds.2014-0329. Epub 2014 Jun 9.
To describe the influence that gestational age and chronological age have on amino acid and acylcarnitine profiles in an at-risk population of premature infants.
Metabolic profiles (15 amino acids and 35 acylcarnitines) were obtained by using standard newborn techniques on infants born between 23 and 31 completed weeks of gestation. The profiles were drawn within the first 24 hours after birth and on approximately days 7, 28, and 42 of life or at discharge. A single, central, contract laboratory analyzed and managed the samples.
We studied 995 patients; none was subsequently diagnosed with an inborn error of metabolism. Of the 3579 samples, there were 257 (7.2%) amino acid or acylcarnitine alerts reported in 214 infants (21.5% of infants studied). Both gestational age and postbirth chronological age significantly influenced the metabolic profile. Twenty-nine percent of infants at 23 to 26 weeks' gestational age had an abnormal metabolic profile compared with 17% of infants at 29 to 31 weeks' gestational age (P < .01). On the day of birth, 12% of the profiles were abnormal compared with 2% on day 28 (P < .01). The highest rate of abnormal values occurred on day 7 in the infants 23 to 26 weeks' gestational age (21%).
These results demonstrate the complexity of understanding the impact of immaturity and disease on metabolic profiles used to screen for inborn errors of metabolism. Our data provide reference values for studies aimed at better understanding metabolism in preterm infants.
描述在有早产风险的人群中,胎龄和年龄对氨基酸和酰基肉碱谱的影响。
对 23 至 31 周龄的早产儿在出生后 24 小时内及出生后约第 7、28 和 42 天或出院时,采用标准新生儿技术获取代谢谱(15 种氨基酸和 35 种酰基肉碱)。所有样本均由单一的中心合同实验室进行分析和管理。
我们研究了 995 例患者,均未被诊断为先天性代谢错误。在 3579 个样本中,214 例婴儿(研究婴儿的 21.5%)有 257 次(7.2%)氨基酸或酰基肉碱异常报告。胎龄和出生后年龄均显著影响代谢谱。23 至 26 周胎龄的婴儿中有 29%存在代谢异常谱,而 29 至 31 周胎龄的婴儿中有 17%(P <.01)。出生当天,12%的图谱异常,而第 28 天为 2%(P <.01)。在胎龄 23 至 26 周的婴儿中,第 7 天异常值的发生率最高(21%)。
这些结果表明,理解不成熟和疾病对用于筛查先天性代谢错误的代谢谱的影响的复杂性。我们的数据为旨在更好地了解早产儿代谢的研究提供了参考值。