{"title":"[一个法伯氏病家族分析]。","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":"{\"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}","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
