X连锁肾上腺脑白质营养不良的治疗
Therapy of X-linked adrenoleukodystrophy.
作者信息
Moser Hugo W
机构信息
Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA.
出版信息
NeuroRx. 2006 Apr;3(2):246-53. doi: 10.1016/j.nurx.2006.01.004.
Abstract
Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with "Lorenzo's Oil," which appears to have a preventive effect in asymptomatic boys whose brain MRI is normal; and hematopoietic stem cell transplantation in patients in the early stage of the cerebral inflammatory phenotype. Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention.
摘要
目前针对X连锁肾上腺脑白质营养不良（X-ALD）的治疗方法包括肾上腺类固醇替代疗法，这对所有肾上腺功能受损的患者来说是必不可少的，但并不能显著改变神经病变的进展；使用“洛伦佐之油”进行饮食治疗，这似乎对脑MRI正常的无症状男孩有预防作用；以及对处于脑炎性表型早期阶段的患者进行造血干细胞移植。应用这些干预措施需要对患者的表型进行仔细评估，而表型通常会随时间变化。家族筛查为疾病预防提供了重要机会。
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