X-连锁肾上腺脑白质营养不良的诊断与治疗  

Diagnosis and managements of X-linked adrenoleukodystrophy

作　　者：何玺玉[1] 

机构地区：[1]军事医学科学院附属医院,中国人民解放军第三0七医院儿科,北京100071

出　　处：《中华实用儿科临床杂志》2015年第8期561-564,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：肾上腺脑白质营养不良（adrenoleuko dystrophy,ALD,OMIM# 300100）是最常见的溶酶体病之一,属于X-连锁遗传病,其致病基因ABCL1发生突变后,其表达的ALD蛋白（ALDP）功能异常,使得极长链脂肪酸（VLCFAs）不能转膜进入细胞溶酶体进行脂肪酸氧化,导致VLCFAs在细胞和体液内异常堆积,细胞和血浆中VLCFAs水平升高,出现弥散性神经脱髓鞘和肾上腺皮质功能不足的临床表现.激素替代和骨髓移植是可能的治疗方法,现重点介绍ALD的遗传病理、诊断与治疗,为临床工作提供帮助.Adrenoleukodystrophy （ALD,OMIM# 300100） is one of the most common peroxisomal disease.It is a kind of X-linked genetic disorder.The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein（ALDP）.A defect in ALDP results in very long-chain fatty acids can not be transported from the cytosol into the peroxisome and impaired accumulation of very long chain fatty acid （VLCFA）-CoA esters in the white matter of the brain,the spinal cord and adrenal cortex.The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination.Corticosteroid replacement therapy is essential and life saving treatment,bone marrow transplantation （BMT） is an option for boys and adolescents in early stages.This review focus on the genetic pathology,diagnosis and managements of patients with X-ALD and provides a guideline for clinicians.

关 键 词：X-连锁肾上腺脑白质营养不良 ABCD1基因 肾上腺脑白质营养不良儿童脑病型 极长链脂肪酸 神经脱髓鞘 

分 类 号：R586[医药卫生—内分泌]