伴有非诊断性血浆极长链脂肪酸的X连锁肾上腺脑白质营养不良。
X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.
作者信息
Kennedy C R, Allen J T, Fensom A H, Steinberg S J, Wilson R
机构信息
Department of Paediatric Neurology, Southampton General Hospital, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1994 Jun;57(6):759-61. doi: 10.1136/jnnp.57.6.759.
Abstract
Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.
摘要
血浆极长链脂肪酸的测定被广泛认为是对X连锁肾上腺脑白质营养不良（X-ALD）进行敏感筛查的一项检测。由于X-ALD临床表现高度可变，这项检测尤为重要。在这个受影响的家系中，X-ALD的儿童进行性形式伴随着血浆极长链脂肪酸浓度“未达诊断标准”。文中讨论了这对X-ALD诊断的影响。
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