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.

abstractsMetachromatic leukodystrophy is an inherited lysosomal disorder caused by autosomal reces-sive mutations of ARSA gene or PASP gene,which result in the accumulation of sulfatides in the central and pe-ripheral 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 pathogen-esis,clinical manifestations,diagnostic process and efficacy of current and possible future therapies such as en-zyme 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 metachro-matic leukodystrophy.