Newborn Screening for X-Linked Adrenoleukodystrophy
Newborn Screening for X-Linked Adrenoleukodystrophy
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DOI：
10.3390/ijns2040015
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发表时间：
2016-12-01
影响因子：
3.5
通讯作者：
Raymond, Gerald V.
中科院分区：
文献类型：
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作者：
Moser, Ann B.;Jones, Richard O.;Raymond, Gerald V.
男性 X 连锁肾上腺脑白质营养不良 (X-ALD) 的早期诊断对于预防因肾上腺功能不全而导致的生命损失以及通过造血细胞移植及时治疗儿童脑型 X-ALD 至关重要。本文介绍了 X-ALD、当前的治疗方法、新生儿筛查测试的发展历史、卫生与公众服务部部长批准将 X-ALD 新生儿筛查添加到推荐的新生儿筛查疾病统一组 (RUSP) 中，以及从 2013 年 12 月 30 日开始在纽约州成功实施 X-ALD 新生儿筛查。概述了纽约州制定的后续指南。基于纽约新生儿筛查的成功以及康涅狄格州（2015 年 12 月开始 X-ALD 新生儿筛查）和加利福尼亚州（2016 年 9 月开始 X-ALD 新生儿筛查）的早期结果，我们有信心并希望 X-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 年启动。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等获得立法批准的州将在预算资源、检测和后续程序到位后立即开始筛查。
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.