{"title":"[The analysis of a family with Fabre disease].","authors":"S Y Zhang, C B Zou, J Y Cao","doi":"10.3760/cma.j.cn112138-20230210-00076","DOIUrl":null,"url":null,"abstract":"患者（先证者）男，46岁。因泡沫尿20年，血液透析12年，GLA基因突变3个月入南京医科大学附属泰州人民医院肾内科，诊断法布雷病，慢性肾脏病5期，血液透析状态。随后进行家系筛查，确诊11例法布雷病，男性3例，女性8例，均为α-半乳糖苷酶基因第6外显子c.902G>A［p.Arg301Gln］突变。患病成员的临床症状及疾病严重程度存在显著的异质性，其中3例患者进行酶替代治疗（阿加糖酶β每2周静脉滴注1 mg/kg）及随访。通过分析该家系基因突变位点的特点及临床表现异质性的原因，以提高临床医生对法布雷病筛查、诊断及治疗的认识水平。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 9","pages":"1129-1133"},"PeriodicalIF":0.0000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua nei ke za zhi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112138-20230210-00076","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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