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扩大遗传代谢性疾病查通过双重质谱光度计:来自伊朗的第一份报告

Marjan Shakiba¹, Mehrdad Yasaei¹, Hedyeh Saneifard¹

¹Department of Pediatric Endocrinology & Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Molecular genetics and metabolism reports

|July 15, 2024

概括

伊朗伊朗伊朗伊朗

科学领域:

医学遗传学医学遗传学
儿科儿科儿科
公共卫生公共卫生

背景情况:

遗传代谢性疾病 (IMD) 是一种罕见的遗传性疾病,经常表现出各种症状.
早期治疗具有挑战性;因此,新生儿查是一个至关重要的策略.
国家扩展查计划对于早期发现和管理IMD至关重要.

研究的目的:

评估伊朗首个国家扩展的遗传代谢疾病查计划的初始结果.
确定在伊朗新生儿中检测到的IMD的患病率和类型.
评估国家IMD查计划的可行性和有效性.

主要方法:

实施了46个IMD的国家扩展查计划.
分析了2018年4月至2022年3月期间查的125,819名婴儿的数据.
评估了婴儿检查,查结果,召回率,反应率和IMD患病率.

主要成果:

估计IMD的总体患病率为1:1015,诊断了124例.
氨基酸病是最频繁检测到的IMD组.
超氨酸血症/基尿症 (PKU) 是发现的最常见的单一疾病.

结论:

新生儿对IMD的查是必不可少的,特别是在血缘关系高的地区.
伊朗国家扩展的IMD查计划已经建立了基线流行数据.
需要进一步的研究,以优化基于区域差异和可用资源的选小组.

关键词:

遗传学遗传学是一种遗传学.在IMD中,IMD是IMD.遗传代谢性疾病遗传性代谢性疾病新生儿是一种新生儿.查检查查检查查检查

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