中国儿童和青少年的家族性高胆固醇血症:一个多中心研究
Meng-Na Huang1, Chen-Cen Wang1,2, Ming-Sheng Ma3
1Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.
Lipids in health and disease
|December 28, 2024
概括
中国儿童的家族性高胆固醇血症 (FH) 显示出独特的遗传变异,与高加索人群不同. 由于该群体的诊断不足和护理延迟,早期识别和治疗至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 心血管疾病 心血管疾病
背景情况:
- 家族性高胆固醇血症 (FH) 是一种遗传性疾病,导致高LDL-C和早期心血管疾病风险.
- 在中国儿科患者中表征FH对于理解遗传多样性至关重要.
研究的目的:
- 为了研究中国儿童的FH遗传谱.
- 在这个人群中探索基因型-表型相关性.
主要方法:
- 分析了140名中国儿科FH患者 (2016年1月至2024年6月) 的临床和遗传数据.
- 确定了LDLR,APOB和PCSK9基因中的遗传变异.
主要成果:
- 发现了87种不同的变种,包括11种新的全球变种 (9种致病性/可能致病性).
- 像c.1448G>A (p.W483*) 在LDLR中的常见变异在中国人口中普遍存在.
- 只有28.57%的患者使用降脂药物,在同卵性FH (HoFH) 病例中延迟开始治疗.
结论:
- 与白人相比,中国儿科FH表现出不同的基因型.
- 诊断不足和治疗不足需要改进早期的脂质/遗传查和及时的药理干预.
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