新生儿筛查：台湾经验。
Newborn screening: Taiwanese experience.
作者信息
Chien Yin-Hsiu, Hwu Wuh-Liang, Lee Ni-Chung
机构信息
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
出版信息
Ann Transl Med. 2019 Jul;7(13):281. doi: 10.21037/atm.2019.05.47.
Abstract
Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that timely treatment can be applied. We describe the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent. We review and update the outcome of NBS-identified patients and discuss the limitations of the current therapy. We also address the challenges associated with caring for the babies with diagnosed acid alpha-glucosidase deficiency but yet without significant clinical manifestations. Further modifications of the current treatment and better predictive biomarkers should be explored.
摘要
新生儿筛查（NBS）旨在更早地诊断庞贝病患者，以便能够及时进行治疗。我们描述了在一个假性缺陷变异普遍存在的人群中台湾地区筛查方法的演变。我们回顾并更新了经新生儿筛查确诊患者的治疗结果，并讨论了当前治疗的局限性。我们还探讨了照顾已确诊为酸性α-葡萄糖苷酶缺乏但尚无明显临床表现婴儿所面临的挑战。应探索对当前治疗方法的进一步改进以及更好的预测性生物标志物。
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本文引用的文献
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Int J Neonatal Screen. 2018 Dec 18;4(4):41. doi: 10.3390/ijns4040041. eCollection 2018 Dec.
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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.纽约飞行员新生儿溶酶体贮积病筛查计划：首批 65000 例婴儿报告。
Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.
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Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.兼职新生儿筛查标志物：庞贝病二线检测的偶然发现。
Genet Med. 2018 Aug;20(8):840-846. doi: 10.1038/gim.2017.190. Epub 2017 Nov 2.
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Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.对早发型庞贝病早期治疗患者进行言语障碍评估的纵向随访。
Eur J Paediatr Neurol. 2017 May;21(3):485-493. doi: 10.1016/j.ejpn.2016.12.004. Epub 2016 Dec 19.
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J Pediatr. 2016 Feb;169:174-80.e1. doi: 10.1016/j.jpeds.2015.10.078. Epub 2015 Dec 10.
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JIMD Rep. 2014;17:71-5. doi: 10.1007/8904_2014_339. Epub 2014 Sep 12.
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