异染性脑白质营养不良  

Metachromatic leukodystrophy

作　　者：杨坤芳(综述)[1] 陈育才(审校)[1] Yang Kunfang, Chen Yucai(Department of Neurology, Shanghai Children＇s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China)

机构地区：[1]上海市儿童医院 上海交通大学附属儿童医院神经内科,200062

出　　处：《国际儿科学杂志》2018年第10期752-755,760,共5页International Journal of Pediatrics

摘　　要：异染性脑白质营养不良是一种常染色体隐性遗传性溶酶体病，该病是由于ARSA基因或PASP基因突变导致脑硫脂在中枢和外周神经系统中累积，引起神经脱髓鞘病变。根据起病年龄，该病可分为晚婴型、青少年型和成人型，其临床表现多样，若不治疗，可引起死亡。目前没有针对该病所有类型的有效治疗方法。该文从发病机制、临床表现、诊断和几种治疗方法（如酶替代治疗、造血干细胞移植和基因疗法）对该病作一综述，对上述治疗方法需进行长期随访和研究以优化针对患儿的治疗方案。Metachromatic leukodystrophy is an inherited lysosomal disorder caused by autosomal recessive mutations of ARSA gene or PASP gene, which result in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelination.The disease is classified into a late-infantile, juvenile and adult onset type based on the age of onset, all characterized by a variety of neurological symptoms, which eventually lead to death if untreated.There is no curative treatment for all types and stages.This review discusses pathogenesis, clinical manifestations, diagnostic process and efficacy of current and possible future therapies such as enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy.A longer follow up period for the above therapies are needed to come to a general conclusion and improve treatment options for metachromatic leukodystrophy.

关 键 词：异染性脑白质营养不良 ARSA基因 溶酶体病 

分 类 号：R742[医药卫生—神经病学与精神病学]