X-连锁型肾上腺脑白质营养不良1例家系报告

X-linked adrenoleukodystrophy-case report of a Chinese kindred

目的观察X-连锁型肾上腺脑白质营养不良的临床表现,探讨其临床特征、分型和治疗方法。方法选择一家系2例姨表兄弟患者,分析其系谱、首发症状、临床表现和影像学特征。结果 2例分别以脑部损害和肾上腺皮质功能不全为首发症状,均有脑部损害及肾上腺皮质功能不全表现。结论该病为X-连锁隐性遗传性脂质代谢障碍疾病,可分为脑型、肾上腺脊髓神经病型、单纯Addison病和杂合子发病等4个亚型。

Objective To observe the clinical manifestations of X - linked adrenoleukodystrophy and discuss the clinical features, classification and therapy. Methods To choose a Chinese family with X - linked adrenoleukodystrophy （with two patients, one of which is the other＇s cousin） and analyze the pedigree, first symptoms, clinical manifestation and imaging characteristics. Results The two patients suffer cerebral injury and adrenocortieal insufficiency as first symptom respectively, both of whom have these two symptoms eventually. Conclusion Adrenoleukodystrophy is an inherited disease as an X - linked recessive trait with impaired peroxisomal metabolism of saturated very long chain fatty acids, which are classified into cerebral ALD, adrenoleukodystrophy, simpie Addison＇s disease and heterozygote subtypes.