Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
复制标题
DOI：
10.1016/j.ymgme.2015.02.002
复制
发表时间：
2015-04-01
影响因子：
3.8
通讯作者：
Caggana, M.
中科院分区：
文献类型：
--
作者：
Vogel, B. H.;Bradley, S. E.;Caggana, M.
目的：描述纽约州为准备X-连锁肾上腺脑白质营养不良(X-ALD)新生儿筛查而制定的诊断方案、监测和治疗指南、遗传咨询注意事项和长期随访数据元素。方法：由纽约各地区遗传性代谢紊乱中心主任、NYS新生儿筛查项目人员和其他人员组成的小组为X-ALD NBS制定了随访计划。在筛查开始前的几个月里，举行了一系列电话会议，以开发和完善从最初阳性筛查结果到长期随访的完整新生儿筛查系统。结果：制定了一套诊断方案，以确定每个筛查阳性新生儿的最终诊断是X-ALD、X-ALD携带者、Zellweger谱系障碍、酰辅酶A氧化酶缺陷或D-双功能蛋白缺陷。对于患有X-ALD的无症状男性，制定了监测方案，用于在诊断时、儿童时期和成年期间使用。对肾上腺和脑部疾病的治疗时机进行了考虑。结论：由于纽约是第一个将X-ALD纳入其小组的新生儿筛查实验室，而且症状可能在几年内不会发展，因此需要长期随访来评估所提出的指南。(C)2015 Elsevier Inc.保留所有权利。
Purpose: To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State.Methods: A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up.Results: A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed.Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines. (C) 2015 Elsevier Inc. All rights reserved.