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肾上腺脑白质营养不良(ALD)是由于饱和极长链脂肪酸(VLCFAs)代谢障碍,使VLCFAs积聚于大脑白质及肾上腺皮质等处,导致一系列进展性神经精神症状和肾上腺皮质功能不全。本病为X连锁隐性遗传,目前已发现数百种ALD基因突变类型,与临床表现型无关,临床呈多样化表现,以神经系统症状为主,部分仅表现为单纯肾上腺皮质功能不全。在原发性肾上腺皮质功能不全的男性患者中,约占13％。本文介绍其病因学及临床特征、诊断学和治疗进展。
Adrenal leukodystrophy (ALD) is a metabolic disorder of saturated very-long chain fatty acids (VLCFAs) that accumulates VLCFAs in the white matter and adrenal cortices of the brain, leading to a series of progressive neuropsychiatric symptoms and adrenal insufficiency. The disease is X-linked recessive inheritance, hundreds of ALD gene mutations have been found, has nothing to do with clinical phenotypes, the clinical showed a variety of manifestations, the main symptoms of nervous system, only part of the performance of simple adrenal insufficiency. In the primary adrenocortical males, about 13% of men. This article describes its etiology and clinical features, diagnosis and treatment progress.