...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Critical reviews in clinical laboratory sciences >Inborn errors of metabolism and expanded newborn screening: Review and update
【24h】

Inborn errors of metabolism and expanded newborn screening: Review and update

机译：新生儿筛查的原始错误和扩展新生儿：审查和更新

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, more than 1000 different IEM have been identified. While individually rare, the cumulative incidence has been shown to be upwards of 1 in 800. Clinical presentations are protean, complicating diagnostic pathways. IEM are present in all ethnic groups and across every age. Some IEM are amenable to treatment, with promising outcomes. However, high clinical suspicion alone is not sufficient to reduce morbidities and mortalities. In the last decade, due to the advent of tandem mass spectrometry, expanded newborn screening (NBS) has become a mandatory public health strategy in most developed and developing countries. The technology allows inexpensive simultaneous detection of more than 30 different metabolic disorders in one single blood spot specimen at a cost of about USD 10 per baby, with commendable analytical accuracy and precision. The sensitivity and specificity of this method can be up to 99% and 99.995%, respectively, for most amino acid disorders, organic acidemias, and fatty acid oxidation defects. Cost-effectiveness studies have confirmed that the savings achieved through the use of expanded NBS programs are significantly greater than the costs of implementation. The adverse effects of false positive results are negligible in view of the economic health benefits generated by expanded NBS and these could be minimized through increased education, better communication, and improved technologies. Local screening agencies should be given the autonomy to develop their screening programs in order to keep pace with international advancements. The development of biochemical genetics is closely linked with expanded NBS. With ongoing advancements in nanotechnology and molecular genomics, the field of biochemical genetics is still expanding rapidly. The potential of tandem mass spectrometry is extending to cover more disorders. Indeed, the use of genetic markers in T-cell receptor excision circles for severe combined immunodeficiency is one promising example. NBS represents the highest volume of genetic testing. It is more than a test and it warrants systematic healthcare service delivery across the pre-analytical, analytical, and post-analytical phases. There should be a comprehensive reporting system entailing genetic counselling as well as short-term and long-term follow-up. It is essential to integrate existing clinical IEM services with the expanded NBS program to enable close communication between the laboratory, clinicians, and allied health parties. In this review, we will discuss the history of IEM, its clinical presentations in children and adult patients, and its incidence among different ethnicities; the history and recent expansion of NBS, its cost-effectiveness, associated pros and cons, and the ethical issues that can arise; the analytical aspects of tandem mass spectrometry and post-analytical perspectives regarding result interpretation.
机译：原始新陈代谢（IEM）是由代谢途径中缺陷引起的表型和遗传异质的疾病组，导致代谢发生故障和/或毒性中间代谢物的积累。迄今为止，已识别出超过1000个不同的IEM。虽然单独稀有，但累积发病率已被证明是800中的1。临床表现是诱使的，复杂的诊断途径。 IEM在所有族群中都存在，每个人都在各个年龄上。有希望的结果，一些IEM可以适应治疗。然而，单独的临床怀疑是降低病理和死亡率的高临床怀疑。在过去的十年中，由于串联质谱的出现，扩展的新生儿筛查（NBS）已成为大多数发达国家和发展中国家的强制性公共卫生战略。该技术允许在一个血液点标本中廉价地检测超过30种不同的代谢障碍，其婴儿的成本约为10美元，具有可称赞的分析精度和精度。对于大多数氨基酸疾病，有机酸和脂肪酸氧化缺陷，该方法的敏感性和特异性分别可达99％和99.995％。成本效益研究证实，通过使用扩大的NBS计划实现的节省明显大于实施成本。鉴于扩展NBS产生的经济健康益处，鉴于NBS产生的经济健康益处，这些不良阳性结果可忽略不计，这些效益可以通过增加的教育，更好的沟通和改进技术来最大限度地减少。应赋予本地筛选机构自主权以制定其筛选计划，以便与国际进步保持步伐。生物化学遗传学的发展与膨胀的NBS密切相关。随着纳米技术和分子基因组学的持续进步，生化遗传学领域仍在迅速扩张。串联质谱仪的电位延伸以覆盖更多疾病。实际上，在T细胞受体切除圈中使用遗传标志物进行严重组合免疫缺陷是一个有希望的例子。 NBS代表最高体积的遗传测试。它不仅仅是一个测试，它保证了在分析前，分析和分析后阶段的系统医疗保健服务。应该有一个全面的报告系统，需要遗传咨询以及短期和长期随访。必须将现有的临床IEM服务与扩展的NBS计划集成，以便在实验室，临床医生和联合卫生派对之间进行密切沟通。在这篇综述中，我们将讨论IEM的历史，其儿童和成人患者的临床介绍，以及其不同种族的发病率; NB的历史和最近扩大，其成本效益，相关的利弊以及可能出现的道德问题;串联质谱分析方面及关于结果解释的分析后观点。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号