Pitts Leslie, White J Michelle, Ladores Sigrid, Wilson Christina M
The University of Alabama at Birmingham School of Nursing, United States.
Johns Hopkins University, United States.
J Pediatr Nurs. 2023 Sep-Oct;72:e53-e70. doi: 10.1016/j.pedn.2023.06.005. Epub 2023 Jun 16.
Adrenoleukodystrophy (ALD) is an x-linked genetic condition with a high risk of adrenal dysfunction recommended for newborn screening. This review aims to critically appraise and synthesize existing literature identifying the impacts of ALD newborn screening in the United States on the evaluation and treatment of adrenal dysfunction in male children.
An integrative literature review was conducted using the Embase, PubMed, and CINAHL databases. English-language primary source studies published in the past decade and seminal studies were included.
Twenty primary sources met the inclusion criteria, including five seminal studies.
Three major themes emerged from the review: 1) prevention of adrenal crisis, 2) unexpected outcomes, and 3) ethical impacts.
ALD screening increases disease identification. Serial adrenal evaluation prevents adrenal crisis and death; data is needed to establish predictive outcomes in ALD prognosis. Disease incidence and prognosis will become more apparent as states increasingly add ALD screening to their newborn panel.
Clinicians need awareness of ALD newborn screening and state screening protocols. Families first learning of ALD through newborn screening results will require education, support, and timely referrals for appropriate care.
肾上腺脑白质营养不良（ALD）是一种X连锁遗传病，肾上腺功能障碍风险高，建议进行新生儿筛查。本综述旨在严格评估和综合现有文献，确定美国ALD新生儿筛查对男童肾上腺功能障碍评估和治疗的影响。
使用Embase、PubMed和CINAHL数据库进行综合文献综述。纳入过去十年发表的英文原始研究和开创性研究。
20篇原始研究符合纳入标准，包括5篇开创性研究。
综述出现了三个主要主题：1）预防肾上腺危象，2）意外结果，3）伦理影响。
ALD筛查增加了疾病识别。连续肾上腺评估可预防肾上腺危象和死亡；需要数据来确定ALD预后的预测结果。随着各州越来越多地将ALD筛查纳入新生儿筛查项目，疾病发病率和预后将变得更加明显。
临床医生需要了解ALD新生儿筛查和各州筛查方案。首次通过新生儿筛查结果得知ALD的家庭将需要教育、支持和及时转介以获得适当护理。
