Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison’s disease improves survival and neurological outcomes

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• 作者：Lynda E. Polgreen (1)
  Saydi Chahla (2)
  Weston Miller (1)
  Steven Rothman (1)
  Jakub Tolar (1)
  Teresa Kivisto (1)
  David Nascene (3)
  Paul J. Orchard (1)
  Anna Petryk (1)
  
• 关键词：Adrenoleukodystrophy ; Adrenal insufficiency ; Addison’s disease ; Hematopoietic cell transplantation
• 刊名：European Journal of Pediatrics
• 出版年：2011
• 出版时间：August 2011
• 年：2011
• 卷：170
• 期：8
• 页码：1049-1054
• 全文大小：201KB
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• 作者单位：Lynda E. Polgreen (1)
  Saydi Chahla (2)
  Weston Miller (1)
  Steven Rothman (1)
  Jakub Tolar (1)
  Teresa Kivisto (1)
  David Nascene (3)
  Paul J. Orchard (1)
  Anna Petryk (1)
  
  1. Department of Pediatrics, University of Minnesota, 516 Delaware St. S.E., PWB 13-124, MMC 8404, Minneapolis, MN, 55455, USA
  2. Medical School, University of Minnesota, Minneapolis, MN, USA
  3. Department of Radiology, University of Minnesota, Minneapolis, MN, USA
  

文摘

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.