X-连锁肾上腺脑白质营养不良11例临床分析.pdfVIP

·论著· X一连锁肾上腺脑白质营养不良11例临床分析 郑鹏杰唐菊英 罗彤枫张少玲 【摘要】 目的从临床表现、血浆极长链脂肪酸(VLCFA)、肾上腺皮质功能及影像学检查等方面对X一连锁肾上腺脑白 质营养不良(ALD)进行分析，以提高对本病的认识。方法回顾性分析11例ALD患者临床表现、检查结果等临床资料。结 ALD是一种X一连锁隐性遗传过氧化物酶体脂质代谢病，临床表现为AI、精神运动障碍、视力、听力障碍等，血浆VLCFA检测、 ALD基因突变分析、头颅MRI检查有助于诊断。骨髓移植对早期脑型ALD患者效果较好，早期诊断、适时干预有助于改善 预后。 [关键词] 连锁(遗传学)；肾上腺脑白质营养不良／遗传学 X-linked 1)Irith of11cases reviewofliterature adrenoleukodystrophy：aretrospectiveanalysis ZhengPengjie+．TangJuying． Luo Yat—senMemorial to·SunYat—sell．， Tongfeng，ZhangShaoling．+DepartmentofEndocrinology，Sun HospitalAffiliated 510120，China University，Guangzhou X—linked a determineddisorderthatischaracterized 【Abstract】Objective adrenoleukodystmphy(X—ALD)isgenetically by ofcentralnervous adrenalcodexandabnormalaccumulationof chain acidsin demyelination system，and verylong fatty body impaired fluidandtissue．Theclinical resonancewere Clinical manifestation，biochemical change，andmagnetic imaginganalyzed．Methods data1I caseswithX—ALDweresummarizedand result．Relevantliteraturewas of analyzed，includingsymptoms，signs，andinspection reviewed．ResultsAllcaseswere onset thatthemean males，whoseaverageagewas(7．2±4．7)year·old．Itwas(2．44-1．9)years interval from to 5onsetneural onset caseswerewithonsetofadrenal appears diagnosis．Six insufficiency(AI)，remainingsymptoms， where testedin6 with