Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations

来源 :World Journal of Gastroenterology | 被引量 : 0次 | 上传用户:mydoself
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Constipation and fecal impaction are frequent and distressing complaints in pediatric gastroenterology. Especially in neurologically handicapped children, treatment of severe forms of slow-transit constipation (STC) can be difficult. In the majority of cases, STC is of unknown etiology. However, in recent years, there is growing evidence that interstitial cells of Cajal (ICCs), which serve as electrical pacemakers and generate spontaneous electrical slow waves in the gastrointestinal tract, might play an important role in the pathophysiology of STC. It remains unclear whether morphological ICC alterations seen in affected patients are based on congenital developmental anomalies, or whether they are a consequence of long-term constipation with secondary damage of the gastrointestinal nervous system. To the best of our knowledge, we present the first case of a patient with histological alterations in ICC morphology who displayed multiple alterations of c-kit at the level of mRNA. The protein encoded by c-kit is the receptor tyrosine kinase Kit (CD117), which is crucial for development and function of ICCs. Therefore, these findings provide a new explanation for congenital alterations of ICC development that result in gastrointestinal motility disorders. In the majority of cases, STC is of unknown etiology. However, in recent years, there is there growing evidence that interstitial cells of Cajal (ICCs), which serves as electrical pacemakers and generate spontaneous electrical slow waves in the gastrointestinal tract, might play an important role in the pathophysiology of STC. It remains unclear whether morphological ICC alterations seen in affected patients are based on congenital developmental anomalies, or whether they are a consequence of long-term constipation with secondary damage of the gastrointestinal nervous system. To the best of our knowledge, we present the first case of a patient with histological alterations in ICC morphology who showed multiple alterations of c-kit at the level of mRNA. The pro tein encoded by c-kit is the receptor tyrosine kinase kit (CD117), which is crucial for development and function of ICCs. Thus, these findings provide a new explanation for congenital alterations of ICC development that result in gastrointestinal motility disorders.
其他文献
在大学生心理咨询中心,学生咨询最多的问题是因情绪引起的心理困惑或是希望了解情绪调控的方法。因为在他们遇到诸如家庭贫困、学习压力、人际关系不和谐、失恋等环境适应障
从萧山女童的冷酷现实、中产的育儿焦虑到“富二代”们的非主流成长,透过不同家庭的教育故事,我们看到了这个时代的阶层生态与困境。  “萧山女童”们:底层家庭的冷酷现实  一位二三岁的孩子趴在地上,孩子的母亲上去就是一顿狠狠地踩踏。这是最近杭州萧山一段引起热议的视频。  视频中的母亲黄某某,与前夫离异后独自抚养小女儿。5月9日,黄某某带着2岁的女儿怀揣仅剩的十几元钱来到劳务市场,到傍晚都没有找到工作,2
阅读照亮您的前程Books enlighten your future英语原版阅读语言提高必经之路He did not say any more but we have always been unusually communicative in a reserved way
近来参加了几场亲子阅读讲座。座中谈及孩子阅读习惯的问题,多数人认为,要让孩子爱上阅读,首先父母要爱上阅读。如果父母成天拿着手机或者打着麻将,就不要期待孩子爱读书。这
在美国,《爱花的牛》是第一本被贴上“颠覆”标签的儿童图画书。在西班牙内战期间(二十世纪三十年代),这本书曾经被禁;另外,它也被德国纳粹列入焚书书单。在很长一段时间里,
“包容性增长”这个词,是由亚洲开发银行在2007年首先提出来的。它寻求的是社会经济的协调、可持续发展。与单纯追求经济增长相对立,包容性增长倡导机会平等的增长,提倡社会
“今天我们学习的内容是PPT中文本背景色彩的填充……”6月14日9点,小赵老师站在黑板前向他的学生们讲解这节计算机课的知识要点。而坐在教室里认真做着笔记的是一群头发花白
“纸上得来终觉浅”这是陆游《午夜读书示子聿》中的名句。想必大家都知道诗句的含义,就是说从书本上直接得来的知识,人们对其理解通常是肤浅的、不够透彻的。那么这是什么原
原名《国外医药———合成药、生化药、制剂分册》《世界临床药物》由国资委直属企业上海医药工业研究院主管主办,在国内医药、医疗卫生企事业单位颇具影响。依托主办单位药
请下载后查看,本文暂不支持在线获取查看简介。 Please download to view, this article does not support online access to view profile.