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首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for X-Linked Adrenoleukodystrophy
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Newborn Screening for X-Linked Adrenoleukodystrophy

机译：X联肾上腺皮质营养不良的新生儿筛查

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Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history of the development of the newborn screening test, the approval by the Secretary of Health and Human Services for the addition of X-ALD newborn screening to the recommended uniform panel of disorders screened as newborns (RUSP) and the successful implementation of X-ALD newborn screening in the state of New York beginning on 30 December 2013. Follow-up guidelines that have been established in New York are outlined. Based on the success of newborn screening in New York, and early results in Connecticut, where X-ALD newborn screening started in December 2015, and in California, where X-ALD newborn screening began in September 2016, we are confident and hopeful that X-ALD newborn screening will expand to include all US states and to countries that have established neonatal screening programs. The Minster of Health in the Netherlands has approved the addition of X-ALD to the newborn screening program with a start date expected in 2017. The states, such as Massachusetts, Illinois, Minnesota, New Jersey, Florida and Washington, that have legislative approval will commence screening as soon as budgetary resources, testing and follow-up procedures are in place.
机译：男性患有X联肾上腺白质营养不良（X-ALD）的早期诊断对于预防由于肾上腺功能不全造成的生命损失以及通过造血细胞移植及时治疗儿童X-ALD形式的脑至关重要。本文介绍了X-ALD，目前的治疗方法，新生儿筛查测试的发展历史，卫生和公共服务大臣批准将X-ALD新生儿筛查添加到推荐的统一筛查疾病中，新生儿（RUSP）和从2013年12月30日开始在纽约州成功实施X-ALD新生儿筛查。概述了纽约已建立的后续指南。根据纽约新生儿筛查的成功经验，以及康涅狄格州（X-ALD新生儿筛查于2015年12月开始和加利福尼亚州X-ALD新生儿筛查于2016年9月开始）的早期结果，我们对X充满信心并希望-ALD新生儿筛查将扩大到包括美国所有州和已建立新生儿筛查计划的国家。荷兰卫生部已批准将X-ALD添加到新生儿筛查计划中，预计将于2017年开始。美国立法批准的州，例如马萨诸塞州，伊利诺伊州，明尼苏达州，新泽西州，佛罗里达州和华盛顿州一旦预算资源，测试和后续程序到位，将立即开始筛选。

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