Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes
Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes
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DOI：
10.1007/s00431-011-1401-1
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发表时间：
2011-08-01
影响因子：
3.6
通讯作者：
Petryk, Anna
中科院分区：
文献类型：
--
作者：
Polgreen, Lynda E.;Chahla, Saydi;Petryk, Anna
大约三分之一患有x连锁肾上腺脑白质增生（X-ALD）的男孩会发展为中枢神经系统的急性进行性炎症过程，导致神经系统迅速恶化和死亡。如果在X-ALD的早期进行造血细胞移植（HCT），可以阻止神经系统疾病的进展。我们描述了一项回顾性队列研究，对2000年至2009年在我们机构评估的90名患有X-ALD的男孩进行了评估，以确定在诊断为不明原因肾上腺功能不全（AI）后早期诊断X-ALD是否能改善预后。我们描述了7例延迟诊断为X-ALD的病例，并将其结果与10例在诊断为AI后12个月内诊断为ALD的对照组进行了比较。在HCT评估时，延迟诊断为X-ALD的男孩有更广泛的大脑受累和更有限的功能。与及时诊断为X-ALD的男孩相比，这些男孩在HCT后死亡的可能性高出3.9倍，并且大脑疾病进展明显。总之，在诊断出原因不明的AI后早期诊断脑X-ALD，并随后进行HCT治疗，可改善脑X-ALD男孩的神经预后和生存率。
Approximately one third of boys with X-linked adrenoleukodystophy (X-ALD) develop an acute, progressive inflammatory process of the central nervous system, resulting in rapid neurologic deterioration and death. Hematopoietic cell transplantation (HCT) can halt the progression of neurologic disease if performed early in the course of the cerebral form of X-ALD. We describe a retrospective cohort study of 90 boys with X-ALD evaluated at our institution between 2000 and 2009, to determine if early diagnosis of X-ALD following the diagnosis of unexplained adrenal insufficiency (AI) improves outcomes. We describe seven cases with a delay in the diagnosis of X-ALD and compare their outcomes to ten controls with the diagnosis of ALD made within 12 months following diagnosis of AI. At the time of evaluation for HCT, boys with a delay in the diagnosis of X-ALD had more extensive cerebral involvement and more limited functioning. These boys also were 3.9 times more likely to die and had significant advancement of cerebral disease after HCT, compared with boys with a timely diagnosis of X-ALD. In conclusion, the early diagnosis of cerebral X-ALD following the diagnosis of unexplained AI, and subsequent treatment with HCT improves both neurological outcomes and survival in boys with cerebral X-ALD.