【关键词】溶酶体贮积症;诊断;治疗基金项目:武汉市科技创新平台-儿童神经疾病临床医学研究中心资助项目(2014—160)Advances in the diagnosis and treatment of lysosomal storage diseases Hu Chunhui,Sun Dan,Hu Jiasheng,Liu Zhisheng.Department ofNeurology,Wuhan Children’s Hospital,Tongfi Medical College,Huazhong Univer-s毋of Science&Technology,Wuhan 430016,China【Abstract】Lysosomal storage diseases are kinds of rare diseases,most of which are autosomal recessivediseases.Currently more than 50 species havebeen found.However,the pathogenesis has not yet fully been un·derstood,and the clinical phenotypes ale different.Enzyme activity test is the golden standard forthe diagnosis.Gene sequencing can be used as auxiliary and prenatal diagnosis.Generally,there are no effective treatments forlysosomal storage disease.Enzymic diagnosis and gene sequencing ale commonly used means of prevention inprenatal diagnosis.In recent years,there has been great progress in terms of bone mallow transplantation,enzymereplacement therapy and gene therapy.In China,lysosomal storage disease spt蚶胁is not yet comprehensive;knowledge of this type of disease is still insufficient.Therefore,for the earlier diagnosis and improved prognosis,strengthening the understanding of the disease is necessary.【Key words】Lysosomal storage diseases;Diagnosis;TreatmentFund program:Wuhan Science and Technology hmovation Platform—Children Nerve Disease ClinicalMedical Research Center Funded Projects(2014-160)