W H Lin, F F Wang, J Xie, L Ren, Y N Han, L N Sun, P Y Chen, S T Gong, Y Fang, L L Geng
{"title":"[儿童SLCO2A1基因相关性慢性肠病3例]。","authors":"W H Lin, F F Wang, J Xie, L Ren, Y N Han, L N Sun, P Y Chen, S T Gong, Y Fang, L L Geng","doi":"10.3760/cma.j.cn112140-20230305-00160","DOIUrl":null,"url":null,"abstract":"例1及例2均因“面色苍白伴腹痛”就诊，例3因“腹痛伴粪隐血阳性”就诊。3例患儿均有腹痛、贫血、低蛋白血症，C反应蛋白及红细胞沉降率正常，内镜检查提示小肠多发环形溃疡并狭窄，其中2例手术病理示溃疡仅累及黏膜层及黏膜下层，3例均行全外显子测序示SLCO2A1纯合突变或复合杂合突变，均诊断SLCO2A1基因相关慢性肠病。3例患儿均予补铁治疗。除例1对糖皮质激素治疗依赖、对阿达木单抗治疗部分有效外，其他治疗炎症性肠病的常规药物对3例患儿均无效。例2对洗涤菌群移植治疗有效。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":"61 9","pages":"844-847"},"PeriodicalIF":0.0000,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Three cases of chronic enteropathy associated with SLCO2A1 gene in children].\",\"authors\":\"W H Lin, F F Wang, J Xie, L Ren, Y N Han, L N Sun, P Y Chen, S T Gong, Y Fang, L L Geng\",\"doi\":\"10.3760/cma.j.cn112140-20230305-00160\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"例1及例2均因“面色苍白伴腹痛”就诊，例3因“腹痛伴粪隐血阳性”就诊。3例患儿均有腹痛、贫血、低蛋白血症，C反应蛋白及红细胞沉降率正常，内镜检查提示小肠多发环形溃疡并狭窄，其中2例手术病理示溃疡仅累及黏膜层及黏膜下层，3例均行全外显子测序示SLCO2A1纯合突变或复合杂合突变，均诊断SLCO2A1基因相关慢性肠病。3例患儿均予补铁治疗。除例1对糖皮质激素治疗依赖、对阿达木单抗治疗部分有效外，其他治疗炎症性肠病的常规药物对3例患儿均无效。例2对洗涤菌群移植治疗有效。.\",\"PeriodicalId\":23998,\"journal\":{\"name\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"volume\":\"61 9\",\"pages\":\"844-847\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-02\",\"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.cn112140-20230305-00160\",\"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.cn112140-20230305-00160","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
