K Y Wang, M Luo, M J Luo, Q Chen, X M Liu, X Y Zhu, L X Shi, Q Zhang
{"title":"【2A型多发性内分泌瘤变综合征合并自身免疫性多内分泌综合征Ⅲ1例】。","authors":"K Y Wang, M Luo, M J Luo, Q Chen, X M Liu, X Y Zhu, L X Shi, Q Zhang","doi":"10.3760/cma.j.cn112138-20221020-00769","DOIUrl":null,"url":null,"abstract":"报道1例51岁女性患者，以阵发性头痛、心悸、大汗1年，腰背胀痛2周入院。检测血浆游离甲氧基肾上腺素、游离甲氧基去甲肾上腺素、降钙素明显升高；先后行双侧肾上腺占位及甲状腺结节手术，术后组织病理学诊断分别为嗜铬细胞瘤及甲状腺髓样癌，基因检测示RET基因11号外显子634密码子处基因点突变，考虑为多发性内分泌腺肿瘤综合征2A型。患者存在1型糖尿病及自身免疫性甲状腺炎，考虑为自身免疫性多内分泌腺病综合征Ⅲ型。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 5","pages":"550-553"},"PeriodicalIF":0.0000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[A case of multiple endocrine neoplasia syndrome type 2A combined with autoimmune polyendocrine syndrome type Ⅲ].\",\"authors\":\"K Y Wang, M Luo, M J Luo, Q Chen, X M Liu, X Y Zhu, L X Shi, Q Zhang\",\"doi\":\"10.3760/cma.j.cn112138-20221020-00769\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"报道1例51岁女性患者，以阵发性头痛、心悸、大汗1年，腰背胀痛2周入院。检测血浆游离甲氧基肾上腺素、游离甲氧基去甲肾上腺素、降钙素明显升高；先后行双侧肾上腺占位及甲状腺结节手术，术后组织病理学诊断分别为嗜铬细胞瘤及甲状腺髓样癌，基因检测示RET基因11号外显子634密码子处基因点突变，考虑为多发性内分泌腺肿瘤综合征2A型。患者存在1型糖尿病及自身免疫性甲状腺炎，考虑为自身免疫性多内分泌腺病综合征Ⅲ型。.\",\"PeriodicalId\":24000,\"journal\":{\"name\":\"Zhonghua nei ke za zhi\",\"volume\":\"62 5\",\"pages\":\"550-553\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-05-01\",\"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.cn112138-20221020-00769\",\"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.cn112138-20221020-00769","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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