[1]黄 靖,陈卫银,王 悦.异染性脑白质营养不良研究概况[J].医学信息,2020,33(18):18-21.[doi:10.3969/j.issn.1006-1959.2020.18.006]
 HUANG Jing,CHEN Wei-yin,WANG Yue.General Situation of Studies on Metachromatic Leukodystrophy[J].Medical Information,2020,33(18):18-21.[doi:10.3969/j.issn.1006-1959.2020.18.006]
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异染性脑白质营养不良研究概况()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
33卷
期数:
2020年18期
页码:
18-21
栏目:
综述
出版日期:
2020-09-15

文章信息/Info

Title:
General Situation of Studies on Metachromatic Leukodystrophy
文章编号:
1006-1959(2020)18-0018-04
作者:
黄 靖陈卫银王 悦
(1.成都中医药大学,四川 成都 610072;2.成都中医药大学附属医院,四川 成都 610072)
Author(s):
HUANG JingCHEN Wei-yinWANG Yue
(1.Chengdu University of Traditional Chinese Medicine,Chengdu 610072,Sichuan,China;2.the Affiliated Hospital of Chengdu University of Traditional Chinese Medicine,Chengdu610072, Sichuan,China)
关键词:
异染性白质营养不良芳基硫酸酶A基因
Keywords:
Metachromatic leukodystrophyArylsulfatase AGene
分类号:
R742.89
DOI:
10.3969/j.issn.1006-1959.2020.18.006
文献标志码:
A
摘要:
异染性白质营养不良(MLD)是一种常染色体隐性遗传的代谢性疾病,其特征是芳基硫酸酶A(ARSA)基因或prosaposin基因(PSAP)缺陷或变异,导致溶酶体内芳基硫酸酶A生成不足,使神经和内脏组织中硫酸酯积累,从而产生中枢和外周神经系统脱髓鞘改变。MLD临床表现为运动障碍、周围神经病、精神行为异常等,目前该病暂无特效治疗方法,以对症治疗为主,造血干细胞移植、基因疗法及酶替代疗法均处于临床研究阶段。本文主要从MLD病理、致病基因、发病机制、临床表现、诊断及治疗等方面对该病进行综述,旨在提高临床对改变的认识,从而改善其治疗效果。
Abstract:
Metachromatic leukodystrophy (MLD) is an autosomal recessive inherited metabolic disease characterized by defects or mutations in the arylsulfatase A (ARSA) gene or prosaposin gene (PSAP), leading to aryl groups in the lysosome Insufficient production of sulfatase A causes the accumulation of sulfate in nerve and visceral tissues, resulting in demyelination changes in the central and peripheral nervous systems. The clinical manifestations of MLD include dyskinesia, peripheral neuropathy, abnormal mental behavior, etc. At present, there is no specific treatment for this disease. Symptomatic treatment is the main treatment. Hematopoietic stem cell transplantation, gene therapy and enzyme replacement therapy are all in the clinical research stage. This article mainly reviews the MLD pathology, pathogenic genes, pathogenesis, clinical manifestations, diagnosis and treatment of the disease, and aims to improve the clinical understanding of the changes and improve its treatment effect.

参考文献/References:

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更新日期/Last Update: 1900-01-01