在1300万中国新生儿中有机酸疾病的发生率:系统性审查和元分析
Shuting Huang1,2, Qiongfang Yao1,3, Fei Kong1,2
1Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou 350001, China.
International journal of neonatal screening
|December 24, 2025
概括
有机酸性疾病 (OADs) 是一种遗传性代谢疾病. 这项研究发现,在中国北部,OAD和甲基马龙酸性血 (MMA) 较为常见,而二甲基甲酸脱酶缺乏症 (2-MBD) 较少.
科学领域:
- 遗传学和基因组学 在
- 代谢障碍 代谢障碍 代谢障碍
- 公共卫生流行病学 流行病学
背景情况:
- 有机酸性疾病 (OADs) 是一组遗传性代谢疾病.
- 这些疾病是由于酶或辅助因子的缺陷导致的,这些酶或辅助因子对代谢途径至关重要.
- 了解OAD的流行病学对于有针对性的公共卫生干预至关重要.
研究的目的:
- 系统地审查和分析中国的OAD发病率.
- 调查中国北部和南部之间OAD患病率的区域差异.
- 确定最常见的OAD及其分布模式.
主要方法:
- 在多个科学数据库 (PubMed,Embase,Web of Science,CNKI,Veipu,Wanfang) 进行了全面的搜索.
- 来自57项研究的数据,包括13,314,056名新生儿和1501名OAD病例,被纳入了元分析.
- 进行了统计分析,以比较中国北部和南部的OAD发病率.
主要成果:
- 发现OAD的总体患病率为每10万新生儿中有112.38例.
- 与中国南部相比,中国北部的OAD和甲基马龙酸血 (MMA) 发病率明显高于中国南部.
- 在中国北部,2-甲基butanyl-CoA脱酶缺乏症 (2-MBD) 的发病率明显较低.
- 在中国北部,MMA与同囊素尿与MMA的比率较高.
结论:
- 在中国,OAD发病率存在显著的区域差异.
- 中国北部的OAD患病率较高,特别是MMA.
- 这些发现提供了关键的流行病学数据,以指导和优化新生儿查计划在中国的OADs.
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