{"title":"[Recent advances in the diagnosis and treatment of Fabry disease].","authors":"J L Liu, H Xu","doi":"10.3760/cma.j.cn112140-20230314-00179","DOIUrl":null,"url":null,"abstract":"法布雷病是一种罕见的 X 连锁遗传溶酶体贮积症，是由于 GLA 基因变异引起 α 半乳糖苷酶 A（α-Gal A）活性异常，从而代谢底物在多脏器贮积，导致多系统受累。儿童期早筛、早诊、早治是关键。法布雷病需多学科综合管理，本文着重介绍儿童法布雷病症状、诊断和鉴别诊断、治疗、筛查和遗传咨询进展的相关知识，有助于儿科医师提高对本病的认知和防治水平。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20230314-00179","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
法布雷病是一种罕见的 X 连锁遗传溶酶体贮积症，是由于 GLA 基因变异引起 α 半乳糖苷酶 A（α-Gal A）活性异常，从而代谢底物在多脏器贮积，导致多系统受累。儿童期早筛、早诊、早治是关键。法布雷病需多学科综合管理，本文着重介绍儿童法布雷病症状、诊断和鉴别诊断、治疗、筛查和遗传咨询进展的相关知识，有助于儿科医师提高对本病的认知和防治水平。.
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