koko体育app

欢迎来到《koko体育app 学报(医学版)》
杨脉, 谢咏梅, 张海洋. 先天性簇绒肠病EpCAM基因复合杂合突变(c.491+1G>A;c.352_353ins CACC)1例报告[J]. koko体育app 学报(医学版), 2022, 53(3): 493-496. DOI:
引用本文: 杨脉, 谢咏梅, 张海洋. 先天性簇绒肠病EpCAM基因复合杂合突变(c.491+1G>A;c.352_353ins CACC)1例报告[J]. koko体育app 学报(医学版), 2022, 53(3): 493-496. DOI:
YANG Mai, XIE Yong-mei, ZHANG Hai-yang. A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)[J]. Journal of Sichuan University (Medical Sciences), 2022, 53(3): 493-496. DOI:
Citation: YANG Mai, XIE Yong-mei, ZHANG Hai-yang. A Case of Congenital Tufting Enteropathy with EpCAM𝐆 Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)[J]. Journal of Sichuan University (Medical Sciences), 2022, 53(3): 493-496. DOI:

先天性簇绒肠病EpCAM基因复合杂合突变(c.491+1G>A;c.352_353ins CACC)1例报告

A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)

  • 摘要: 患儿男,1月龄,因“反复腹泻20+ d,吐奶4 d”入院。患儿生后第8天开始出现反复顽固性腹泻,伴腹胀、呕吐、脱水、酸中毒、营养不良,家族中多例消化系统恶性肿瘤患者。基因检测发现人上皮黏附因子(epithelial cell adhesion molecule, EpCAM)基因复合杂合突变(c.491+1G>A;c.352_353ins CACC),确诊为先天性簇绒肠病。予部分肠外营养支持,患儿腹泻好转,但加奶困难,奶量增加即腹胀、呕吐。住院后期出现反复发热,最终家属签字出院。出院后仍有腹泻、吐奶,出院4周患儿体质量下降约1 kg,最终死亡。  
    Abstract: The patient, a one-month-old male infant, was admitted for “recurrent diarrhea for 20+ days and vomiting for 4 days”. On the 8th day after birth, the patient began to develop recurrent refractory diarrhea, accompanied by abdominal distension, vomiting, dehydration, acidosis, and malnutrition. There were many cases of malignant tumors of the digestive system in the patient’s family. Genetic testing identified compound heterozygous mutations (c.491+1G>A; c.352_353ins CACC) in epithelial cell adhesion molecule (EpCAM) gene and the patient was hence diagnosed with congenital tufting enteropathy. The patient was given partial parenteral nutrition support. The patient’s diarrheal symptom was improved, but it was difficult to increase the amount of formula because any increase in the amount of formula for the patient would inevitably result in abdominal distention and vomiting. The patient experienced repeated fever in the later period of hospitalization and was eventually discharged from the hospital with the family’s signed consent. He still had diarrhea and vomiting after leaving the hospital. Four weeks after discharge, the patient lost about 1 kg of weight and eventually died.  
© 2022 《koko体育app 学报(医学版)》编辑部 版权所有 cc

开放获取🌺 本文遵循知识共享署名—非商业性使用4.0国际许可协议(CC BY-NC 4.0),允许第三方对本刊发表的论文自由共享(即在任何媒介以任何形式复制、发行原文)、演绎(即修改、转换或以原文为基础进行创作),必须给出适当的署名,提供指向本文许可协议的链接,同时标明是否对原文作了修改;不得将本文用于商业目的。CC BY-NC 4.0许可协议详情请访问

/

返回文章
返回
var _hmt = _hmt || []; (function() { var hm = document.createElement("script"); hm.src = "https://hm.baidu.com/hm.js?90c4d9819bca8c9bf01e7898dd269864"; var s = document.getElementsByTagName("script")[0]; s.parentNode.insertBefore(hm, s); })(); !function(p){"use strict";!function(t){var s=window,e=document,i=p,c="".concat("https:"===e.location.protocol?"https://":"http://","sdk.51.la/js-sdk-pro.min.js"),n=e.createElement("script"),r=e.getElementsByTagName("script")[0];n.type="text/javascript",n.setAttribute("charset","UTF-8"),n.async=!0,n.src=c,n.id="LA_COLLECT",i.d=n;var o=function(){s.LA.ids.push(i)};s.LA?s.LA.ids&&o():(s.LA=p,s.LA.ids=[],o()),r.parentNode.insertBefore(n,r)}()}({id:"K9y7iMpaU8NS42Fm",ck:"K9y7iMpaU8NS42Fm"}); koko体育-koko体育app koko体育-koko体育网页版koko体育app koko体育-全站app下载(官网) m6米乐app|下载 m6米乐app|主頁欢迎您!!