Division of Pediatric Endocrinology and Diabetes, Children's Hospital at Montefiore, Albert Einstein School of Medicine, Bronx, New York.
Section of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital at The Ohio State University, Columbus, Ohio.
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331. doi: 10.1210/jc.2018-00920.
Adrenoleukodystrophy (ALD) is a peroxisomal disorder associated with neurologic decompensation and adrenal insufficiency. Newborn screening for ALD has recently been implemented in five states with plans to expand to all 50 states in the United States. Adrenal insufficiency ultimately develops in most males with ALD, but the earliest age of onset is not well established.
These clinical recommendations are intended to address screening for adrenal insufficiency in boys identified to have ALD by newborn screen.
Seven members of the Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee, with clinical experience treating children with ALD and adrenal insufficiency, and a pediatric endocrinologist and laboratory director were selected to be on the working committee.
The authors comprised the working group and performed systematic reviews of the published literature regarding adrenal insufficiency and ALD. The recommendations were reviewed and approved by the larger Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee and then by the Pediatric Endocrine Society Board of Directors.
There is limited literature evidence regarding monitoring of evolving adrenal insufficiency in male infants and children with ALD. The recommendations suggest initiating assessment of adrenal function at diagnosis with ALD and regular monitoring to identify boys with adrenal insufficiency in a timely manner and prevent life-threatening adrenal crisis. These recommendations are intended to serve as an initial guide, with the understanding that additional experience will inform future guidelines.
肾上腺脑白质营养不良（ALD）是一种过氧化物酶体疾病，与神经功能失代偿和肾上腺功能不全有关。ALD 的新生儿筛查最近已在美国五个州实施，并计划扩展到全美 50 个州。大多数患有 ALD 的男性最终会出现肾上腺功能不全，但发病的最早年龄尚未确定。
这些临床建议旨在解决通过新生儿筛查发现 ALD 的男孩的肾上腺功能不全筛查问题。
七位儿科内分泌学会药物和治疗/罕见疾病委员会成员，他们具有治疗患有 ALD 和肾上腺功能不全的儿童的临床经验，以及一位儿科内分泌学家和实验室主任被选为工作组的成员。
作者组成了工作组，并对有关肾上腺功能不全和 ALD 的已发表文献进行了系统评价。建议由更大的儿科内分泌学会药物和治疗/罕见疾病委员会审查和批准，然后由儿科内分泌学会董事会批准。
关于男性婴儿和儿童 ALD 中不断发展的肾上腺功能不全的监测，文献证据有限。建议在诊断 ALD 时开始评估肾上腺功能，并定期监测，以便及时发现肾上腺功能不全的男孩，并预防危及生命的肾上腺危象。这些建议旨在作为初步指南，随着经验的增加，未来将制定出更详细的指南。
