Raymond Gerald V, Jones Richard O, Moser Ann B
Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Mol Diagn Ther. 2007;11(6):381-4. doi: 10.1007/BF03256261.
X-Linked adrenoleukodystrophy (X-ALD) is a progressive metabolic condition affecting the adrenal glands and nervous system of males. Although variable in the age of onset and presentation in families, X-ALD does present in characteristic phenotypes including a devastating childhood form that affects 35% of boys with this genetic condition. The majority of males with X-ALD will also develop adrenal insufficiency, which may result in crisis. Early detection is desirable in order to prevent morbidity from this condition. We have recently developed a tandem mass spectroscopy method that allows this to be done during newborn screening for other genetic disorder. In this review, we discuss the rationale for early detection, its effect on treatment, and some of the uncertainties.
X连锁肾上腺脑白质营养不良（X-ALD）是一种进行性代谢疾病，影响男性的肾上腺和神经系统。尽管在家族中的发病年龄和表现存在差异，但X-ALD确实呈现出特征性表型，包括一种严重的儿童型，影响35%患有这种遗传疾病的男孩。大多数患有X-ALD的男性还会出现肾上腺功能不全，这可能导致危机。为了预防这种疾病的发病，早期检测是可取的。我们最近开发了一种串联质谱方法，可在新生儿筛查其他遗传疾病时进行此项检测。在本综述中，我们讨论了早期检测的基本原理、其对治疗的影响以及一些不确定性。
