日本在新生儿查 lysosomal 储存疾病和 adrenoleukodystrophy 的经验
Takanori Onuki1,2, Makiko Tajika1, Yohei Sugiyama1
1Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan.
Orphanet journal of rare diseases
|July 24, 2025
概括
日本扩展的新生儿查 (NBS) 现在包括 lysosomal storage diseases (LSDs) 和 adrenoleukodystrophy (ALD),诊断的病例比预期的多,但在准确性和解释方面面临挑战.
科学领域:
- 医学遗传学 医学遗传学
- 公共卫生 公共卫生
- 生物化学 生物化学
背景情况:
- 新生儿查 (NBS) 正在全球范围内扩大,包括溶酶体储存疾病 (LSD) 和 adrenoleukodystrophy (ALD) 早期诊断和治疗.
- 日本在2006年开始试点扩大LSD的NBS,并在2021年引入ALD的NBS,并在全国范围内增加实施.
- 这项研究解决了评估日本扩大NBS的实用性,流行率和挑战的需要.
研究的目的:
- 报告日本扩大NBS的当前实施情况.
- 澄清扩展NBS对LSD和ALD的有用性.
- 识别在扩大 NBS 实施过程中遇到的挑战.
主要方法:
- 在实施一年以上的地区,在监督扩大NBS的医生中进行了一项全国性调查.
- 调查项目包括测试实体,设施,目标区域,诊断程序,治疗选择,疾病目标,费用,样本采集,测试方法和定量查数据.
- 从参与地区收集了扩展NBS,重复测试和诊断的数据.
主要成果:
- 九个地区和一个组织报告了对733,838名新生儿的查,诊断了101例病例 (法布里病,MPS II,佩病,高希病,MPS I,ALD).
- 确诊病例的数量超过估计的患病率,但积极的预测值较低,庞培病,MPS II和ALD的错误阳性率较高.
- 在ABCD1基因 (用于ALD) 中,伪缺陷等位基因,方法变异和未知意义的变异 (VUS) 导致了诊断挑战.
结论:
- 扩展NBS用于LSD和ALD在日本越来越多地被采用,这导致了一些患者的诊断和治疗.
- 关键的挑战仍然存在,包括伪缺陷等位基因,不明确的指示,测试方法和VUS.的解释.
- 测试方法和解释指南的改进是必要的,以便有效地实施扩展的NBS.
关键词:
这就是ALD.adrenoleukodystrophy ( adrenoleukodystrophy) 的意思是腺核细胞衰竭,也就是说 adrenoleukodystrophy ( adrenoleukodystrophy) 的意思是腺核细胞衰竭.这是一种LSD,一种LSD.lysosomal 储存疾病 lysosomal 储存疾病国家储备银行 (NBS) 是国家储备银行.新生儿查 新生儿查更多相关视频
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