Hirschsprung's disease

Common Name(s)

Hirschsprung's disease

Hirschsprung's disease is a condition that is present at birth due to the absence of nerves in the colon. Without these nerves, an affected individual will have difficulty passing stool. The most obvious symptom of this disease is when a newborn baby does not have a bowel movement within the first few days of life. However, in less severe cases, an affected individual may still have bowel movements and the disease may not be diagnosed until later when the child has difficulty becoming toilet trained or has difficulty controlling his or her bowel movements. Other symptoms of Hirschsprung's disease in newborns include vomiting, an enlarged abdomen, constipation, gas, or diarrhea. In older children, the symptoms may include chronic constipation, gas, an enlarged abdomen, fatigue, and failure to gain weight.

Hirschsprung's disease may be caused by a genetic mutation, although the exact inheritance is not well known. A major complication associated with this disease is the development of enterocolitis later in life, which is a condition caused by inflammation of the colon and can be life threatening. Factors that increase the risk of a newborn having Hirschsprung's disease include having a sibling with the disease, male gender, or certain genetic conditions such as Down syndrome (trisomy 21). Hirschsprung's disease is treated with surgery to remove the affected portion of the colon. After surgery, it is important to watch for signs that may indicate complications, such as vomiting, bleeding from the rectum, diarrhea, fever, or an enlarged abdomen. Support groups are available as a resource for more information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hirschsprung's disease" for support, advocacy or research.

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

Last Updated: 28 Feb 2015

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Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

Last Updated: 6 Mar 2014

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Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

Last Updated: 8 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hirschsprung's disease" for support, advocacy or research.

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

http://www.agmd-gimotility.org

Last Updated: 28 Feb 2015

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Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

http://www.mowatwilson.org

Last Updated: 6 Mar 2014

View Details
Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

http://www.PullthruNetwork.org

Last Updated: 8 Nov 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hirschsprung's disease" returned 250 free, full-text research articles on human participants. First 3 results:

Hirschsprung's Disease-Related Giant Sigmoid Volvulus Complicated by Refractory Hypertension in an Elderly Man.
 

Author(s): Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen

Journal:

 

BACKGROUND Sigmoid volvulus (SV) is a life-threatening condition occasionally seen in adults. Adult Hirschsprung's disease (HD)-related SV is rarely complicated by difficult-to-control hypertension. In this report we present the case of an elderly man with a rare constellation of ...

Last Updated: 31 Dec 1969

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Laparoscopic-assisted endorectal pull-through for Hirschsprung's disease. A retrospective study.
 

Author(s): Xiaogang Li, Xiaoyun Li, Jun Cheng, Yongkang Zhang, Wei Zou, Fei Xie, Zhenggui Tao, Shaotao Tang, Mingguo Du, Xiaofeng Liao

Journal: Saudi Med J. 2017 Dec;38(12):1255-1258.

 

To summarize the efficacy of the laparoscopic-assisted transanal-endorectal pull-through procedure for Hirschsprung's disease (HD).

Last Updated: 31 Dec 1969

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Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung's disease in newborns - a nationwide cohort study.
 

Author(s): Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist

Journal:

 

Hirschsprung's disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung's disease. Two clinical cases of hirschsprung's disease led to an investigation ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hirschsprung's disease" returned 21 free, full-text review articles on human participants. First 3 results:

NETS study: development of a Hirschsprung's disease core outcome set.
 

Author(s): Benjamin Saul Raywood Allin, Timothy Bradnock, Simon Kenny, Jennifer J Kurinczuk, Gregor Walker, Marian Knight,

Journal: Arch. Dis. Child.. 2017 12;102(12):1143-1151.

 

The objective of this study was to develop a Hirschsprung's disease (HD) core outcome set (COS).

Last Updated: 31 Dec 1969

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Variability of outcome reporting in Hirschsprung's Disease and gastroschisis: a systematic review.
 

Author(s): Benjamin Saul Raywood Allin, Amy Irvine, Nicholas Patni, Marian Knight

Journal:

 

Heterogeneity in outcome reporting limits identification of gold-standard treatments for Hirschsprung's Disease(HD) and gastroschisis. This review aimed to identify which outcomes are currently investigated in HD and gastroschisis research so as to counter this heterogeneity through ...

Last Updated: 31 Dec 1969

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NETS: study protocol for development of a core outcome set for use in determining the overall success of Hirschsprung's disease treatment.
 

Author(s): Benjamin Allin, Timothy Bradnock, Simon Kenny, Gregor Walker, Marian Knight

Journal:

 

Use of core outcome sets in research has been proposed as a method for countering the problems caused by heterogeneity of outcome measure reporting. Heterogeneity of outcome measure reporting occurs in Hirschsprung's disease (HD) research and is limiting the development of a robust ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Enhanced Recovery After Surgery In Hirschsprung Disease
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 18 May 2016

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Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease
 

Status: Not yet recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 30 Aug 2017

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Genetic Mosaicism in Hirschsprung's Disease
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 6 Apr 2017

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