Hirschsprung disease: current perspectives

IF 0.6 Q4 SURGERY

Open Access Surgery Pub Date : 2016-05-27 DOI:10.2147/OAS.S81552

S. Moore

引用次数: 16

Abstract

: Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results from a disturbance of the normal development of the enteric nervous system. As a result, aganglionosis of the distal bowel occurs. It is the most common cause of a low intestinal obstruction in the neonate as well as older children. Occurring as an isolated condition in 70% of cases, it may be associated with other associated congenital abnormalities as well as a number of syndromic phenotypes. A number of distinct genetic sites have been identified in these syndromic phenotypes, which identify potential underlying genetic associations of the disease and indicate the probable gene–gene interaction in its pathogenesis. This review

查看原文本刊更多论文

巨结肠疾病:当前观点

先天性巨结肠病是一种复杂的先天性肠道疾病，被认为是遗传的，是肠道神经系统正常发育受到干扰的结果。结果，发生远端肠的神经节病。这是最常见的原因低肠梗阻在新生儿以及年龄较大的儿童。在70%的病例中，它是一种孤立的疾病，可能与其他相关的先天性异常以及许多综合征表型有关。在这些综合征表型中已经确定了许多不同的遗传位点，这些遗传位点确定了该疾病潜在的潜在遗传关联，并表明其发病机制中可能的基因-基因相互作用。这篇评论

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Open Access Surgery SURGERY-

自引率

0.00%

发文量

审稿时长

16 weeks

期刊介绍： Open Access Surgery is an international, peer-reviewed, Open Access journal that focuses on all aspects of surgical procedures and interventions. Patient care around the peri-operative period and patient outcomes post surgery are key topics for the journal. All grades of surgery from minor cosmetic interventions to major surgical procedures will be covered. Novel techniques and the utilization of new instruments and materials, including implants and prostheses that optimize outcomes constitute major areas of interest. Contributions regarding patient satisfaction, preference, quality of life, and their role in optimizing new surgical procedures will be welcomed. The journal is characterized by the rapid reporting of case reports, clinical studies, reviews and original research.