中文摘要：

溶酶体在真核细胞中广泛存在，其功能异常会导致多种疾病发生。迄今，已明确有数种溶酶体相关疾病累及听觉系统，包括：法布瑞氏症、戈谢病、庞贝氏病、甘露糖苷贮积症、黏多糖贮积症、C1型尼曼匹克病、动作性肌阵挛-肾衰综合征、耳聋-甲发育不全综合征、远端肾小管性酸中毒。其中大部分属于先天性溶酶体病（又称溶酶体贮积症，lysosomal storage diseases，LSDs）。该类疾病临床表现具有明显异质性，病变可累及多个组织部位，中枢神经系统和周围神经系统最易受累。听觉系统症状在过去往往被忽视，近年来开始逐渐受到关注，本文将针对导致耳聋的溶酶体相关疾病进行归纳总结。

英文摘要：

Lysosomes are organelles found in nearly all eukaryotic cells and lysosomal impairment can cause a varietyof diseases.Hearing deficits have been reported in several lysosome-related diseases,including Fabry disease,Gaucherdisease,Pompe disease,Alpha-mannosidosis,mucopolysaccharidosis,Niemann-Pick disease type C1,action myoclonus-renal failure,dominant deafness-onychodystrophy syndrome and distal renal tubular acidosis.Most of the diseasesare inborn lysosomal diseases(also known as lysosomal storage diseases,LSDs).The lesions involve multiple regionsand there is great clinical heterogeneity among these diseases,among which central nervous system and peripheralnervous system are the most vulnerable.This review summarizes the lysosome-related diseases with auditory systemsymptoms which have attracted increasing attentions in recent years.