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评估和应用的acylcarnitines总和作为辅助量化指标的初级卡尼缺乏症
Haijuan Zhi1, Siyu Chang1, Ting Chen1
1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
International journal of neonatal screening
|June 25, 2025
概括
新生儿初级卡尼缺乏症 (PCD) 的查可以通过使用布基卡尼 (C4) 和异基卡尼 (C5) 测量来改进. 这种方法有助于减少诊断PCD时的错误阳性结果.
科学领域:
- 生物化学 生物化学
- 代谢障碍 代谢障碍 代谢障碍
- 新生儿查 新生儿查
背景情况:
- 新生儿的自由卡尼丁 (C0) 含量较低,应转诊进行一次性卡尼丁缺乏症 (PCD) 检测.
- 当前的查方法导致了高比例的假阳性转诊.
研究的目的:
- 为了提高PCD诊断的准确性,评估acylcarnitines及其总结.
- 减少新生儿PCD查中的错误阳性转诊.
主要方法:
- 对72例基因确诊的PCD病例进行了回顾性分析.
- 在约8万个样本中,通过丁甲尼丁 (C4) + 异甲尼丁 (C5) 验证C0.
- 使用ROC曲线分析来评估分辨力.
主要成果:
- C4,乙卡尼丁 (C2) 和C5显示PCD的高分辨力 (AUC>98%).
- 在C4+C5总和中,在0.181μmol/L的截止值下,获得了100%的灵敏度.
- 在验证过程中,C4+C5添加增加了新生儿查中的正预测值 (PPV) 从0.75%增加到1.54%
结论:
- C4和C5是改善PCD诊断的理想辅助指标.
- C4 + C5 总和有效地减少了PCD查中的错误阳性结果.
- 建议使用C4 + C5作为PCD后续监测的辅助指标.
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