溶酶体疾病的新生儿筛查：任务蔓延及未来趋势初现？
Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?
作者信息
Wilcken Bridget
机构信息
Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia;
Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia.
出版信息
Int J Neonatal Screen. 2018 Jun 27;4(3):21. doi: 10.3390/ijns4030021. eCollection 2018 Sep.
Abstract
Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early diagnosis for those cases, or what should be called a benefit. Diagnosing adult-onset cases, especially when there are quite imperfect genotype-phenotype correlations, represents a significant expansion of what has heretofore been considered the aim of newborn screening. This mission creep should be carefully discussed, and certain aspects of newborn screening strengthened. We should all proceed with caution in this field.
摘要
现在可以成功地通过新生儿筛查来发现多种溶酶体疾病病例。然而，许多确诊病例并不需要立即干预，对于某些疾病而言，早期诊断对这些病例是否有益，或者什么才应被称为益处，目前尚不清楚。诊断成人发病的病例，尤其是在基因型与表型关联相当不完善的情况下，这意味着新生儿筛查的目标有了显著扩展，超出了以往的范畴。这种任务扩展应予以审慎讨论，并加强新生儿筛查的某些方面。在这个领域，我们都应谨慎行事。
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