Newborn screening for adrenoleukodystrophy: implications for therapy.
Newborn screening for adrenoleukodystrophy: implications for therapy.
复制标题
新生儿肾上腺脑白质营养不良筛查：对治疗的影响。
DOI：
10.1007/bf03256261
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发表时间：
2007
影响因子：
4
通讯作者：
Moser,AnnB
中科院分区：
文献类型：
--
作者：
Raymond,GeraldV;Jones,RichardO;Moser,AnnB
X连锁肾上腺脑白质营养不良（X-ALD）是一种影响男性肾上腺和神经系统的进行性代谢疾病。虽然发病年龄和家族表现各不相同，但X-ALD确实存在特征性表型，包括影响35%患有这种遗传病的男孩的毁灭性童年形式。大多数患有X-ALD的男性也会出现肾上腺功能不全，这可能导致危机。早期检测是可取的，以防止这种情况的发病率。我们最近开发了一种串联质谱法，可以在新生儿筛查其他遗传疾病时进行这项工作。在这篇综述中，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。
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.