L Y Xiong, P Y Chen, J Xie, L Ren, H L Wang, Y Cheng, P Q Wu, H W Li, S T Gong, L L Geng
{"title":"【以AAAS基因新突变致贲门失弛缓症为首发临床表型的Allgrove综合征1例】。","authors":"L Y Xiong, P Y Chen, J Xie, L Ren, H L Wang, Y Cheng, P Q Wu, H W Li, S T Gong, L L Geng","doi":"10.3760/cma.j.cn112140-20221030-00921","DOIUrl":null,"url":null,"abstract":"患儿 女，3岁9月龄，因间断呕吐2年于2022年2月就诊于广州市妇女儿童医疗中心消化科，主要临床表现为进食后呕吐，全身皮肤色黑，哭时无泪，上消化道钡餐造影示贲门失弛缓症，肾上腺功能检查示皮质醇减低、促肾上腺皮质激素增高，符合肾上腺皮质功能低下，基因检查存在AAAS基因c.923C>A纯合无义突变，确诊为Allgrove综合征，给予口服醋酸氢化可的松、左甲状腺素钠片及多潘立酮片，门诊随访1年，患儿皮肤、眼周色素渐变浅，每个月呕吐4~5次。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":"61 7","pages":"648-650"},"PeriodicalIF":0.0000,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[A case of Allgrove syndrome with achalasia of cardia as its first clinical phenotype caused by a new mutation of AAAS gene].\",\"authors\":\"L Y Xiong, P Y Chen, J Xie, L Ren, H L Wang, Y Cheng, P Q Wu, H W Li, S T Gong, L L Geng\",\"doi\":\"10.3760/cma.j.cn112140-20221030-00921\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"患儿 女，3岁9月龄，因间断呕吐2年于2022年2月就诊于广州市妇女儿童医疗中心消化科，主要临床表现为进食后呕吐，全身皮肤色黑，哭时无泪，上消化道钡餐造影示贲门失弛缓症，肾上腺功能检查示皮质醇减低、促肾上腺皮质激素增高，符合肾上腺皮质功能低下，基因检查存在AAAS基因c.923C>A纯合无义突变，确诊为Allgrove综合征，给予口服醋酸氢化可的松、左甲状腺素钠片及多潘立酮片，门诊随访1年，患儿皮肤、眼周色素渐变浅，每个月呕吐4~5次。.\",\"PeriodicalId\":23998,\"journal\":{\"name\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"volume\":\"61 7\",\"pages\":\"648-650\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-02\",\"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.cn112140-20221030-00921\",\"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 er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20221030-00921","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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