X H Tao, T Xu, Q Lu, W D Yang, Y Q Hu, W Z Fu, H Yue, Z L Zhang
{"title":"[伴有SQSTM1和HNRNPA2B1基因突变的骨Paget病:附2例报告]。","authors":"X H Tao, T Xu, Q Lu, W D Yang, Y Q Hu, W Z Fu, H Yue, Z L Zhang","doi":"10.3760/cma.j.cn112138-20220901-00648","DOIUrl":null,"url":null,"abstract":"畸形性骨炎是一种临床罕见的慢性进展性代谢性骨病,目前病因不明,其主要特征为骨吸收增加,随之代偿性新骨形成增加,临床表现为碱性磷酸酶升高、骨痛、骨骼畸形,易出现病理性骨折。本文报道2例罕见的畸形性骨炎分别由SQSTM1基因及HNRNPA2B1基因突变所致,分析2例患者的临床表现并复习相关文献,以期提高临床医生对该病的认识和诊治水平,并为后续开展分子诊断和基因筛查提供依据。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 8","pages":"1021-1025"},"PeriodicalIF":0.0000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Paget's disease of bone with SQSTM1 and HNRNPA2B1 gene mutations: report of 2 cases].\",\"authors\":\"X H Tao, T Xu, Q Lu, W D Yang, Y Q Hu, W Z Fu, H Yue, Z L Zhang\",\"doi\":\"10.3760/cma.j.cn112138-20220901-00648\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"畸形性骨炎是一种临床罕见的慢性进展性代谢性骨病,目前病因不明,其主要特征为骨吸收增加,随之代偿性新骨形成增加,临床表现为碱性磷酸酶升高、骨痛、骨骼畸形,易出现病理性骨折。本文报道2例罕见的畸形性骨炎分别由SQSTM1基因及HNRNPA2B1基因突变所致,分析2例患者的临床表现并复习相关文献,以期提高临床医生对该病的认识和诊治水平,并为后续开展分子诊断和基因筛查提供依据。.\",\"PeriodicalId\":24000,\"journal\":{\"name\":\"Zhonghua nei ke za zhi\",\"volume\":\"62 8\",\"pages\":\"1021-1025\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-01\",\"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.cn112138-20220901-00648\",\"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.cn112138-20220901-00648","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}