溶酶体贮积症是一类罕见的疾病,多为常染色体隐性遗传病,目前已知病种超过50余种,发病机制尚未完全明了,临床表型更是有所不同,酶活性检测为诊断的金标准,基因检测可作为辅助诊断及产前预防诊断.溶酶体贮积症总体来说尚无十分有效的治疗方法,常用的防治手段主要是在产前进行酶学诊断和基因诊断,行产前预防性诊断.近年来骨髓移植、酶替代疗法、基因治疗也取得相应进展.国内溶酶体贮积症疾病谱尚不全面,对该类疾病认识尚不足.因此,加强对该病的认识十分必要,便于早期诊断,改善预后.%Lysosomal storage diseases are kinds of rare diseases,most of which are autosomal recessive diseases.Currently more than 50 species have been found.However,the pathogenesis has not yet fully been understood,and the clinical phenotypes are different.Enzyme activity test is the golden standard for the diagnosis.Gene sequencing can be used as auxiliary and prenatal diagnosis.Generally,there are no effective treatments for lysosomal storage disease.Enzymic diagnosis and gene sequencing are commonly used means of prevention in prenatal diagnosis.In recent years,there has been great progress in terms of bone marrow transplantation,enzyme replacement therapy and gene therapy.In China,lysosomal storage disease spectrum 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.
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