Moser H W, Tutschka P J, Brown F R, Moser A E, Yeager A M, Singh I, Mark S A, Kumar A A, McDonnell J M, White C L
Neurology. 1984 Nov;34(11):1410-7. doi: 10.1212/wnl.34.11.1410.
An allogeneic bone marrow transplant (BMT) from a normal HLA identical sibling donor was performed in a 13-year-old boy with rapidly progressive adrenoleukodystrophy (ALD). Engraftment and complete hematologic recovery occurred within 4 weeks, but neurologic deterioration continued. The patient died of an adenovirus infection 141 days after BMT. ALD is characterized by abnormally high plasma levels of very long chain fatty acids (VLCFA) as a result of impaired capacity to degrade them. Ten days after BMT, the white blood cell VLCFA levels and enzyme activity became normal; after 3 months, there was progressive reduction of plasma VLCFA to levels only slightly above normal.
一名13岁快速进展性肾上腺脑白质营养不良（ALD）男孩接受了来自 HLA 相同的正常同胞供体的异基因骨髓移植（BMT）。移植后4周内实现了植入和完全血液学恢复，但神经功能仍持续恶化。患者在BMT后141天死于腺病毒感染。ALD的特征是由于降解超长链脂肪酸（VLCFA）的能力受损，导致血浆中VLCFA水平异常升高。BMT后10天，白细胞VLCFA水平和酶活性恢复正常；3个月后，血浆VLCFA逐渐降至仅略高于正常水平。
