{"title":"Hirschsprung disease: current perspectives","authors":"S. Moore","doi":"10.2147/OAS.S81552","DOIUrl":null,"url":null,"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","PeriodicalId":56363,"journal":{"name":"Open Access Surgery","volume":"9 1","pages":"39-50"},"PeriodicalIF":0.6000,"publicationDate":"2016-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/OAS.S81552","citationCount":"16","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Open Access Surgery","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/OAS.S81552","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"SURGERY","Score":null,"Total":0}
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
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.
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