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Hirschsprung Disease (Hirschsprung's Disease)

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Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.

Also Known As:

Hirschsprung's Disease; Congenital Megacolon; Aganglionosis, Rectosigmoid Colon; Aganglionosis, Total Colonic; Rectosigmoid Aganglionosis; Total Colonic Aganglionosis; Aganglionosis, Rectosigmoid; Disease, Hirschsprung; Disease, Hirschsprung's; Hirschsprungs Disease; Rectosigmoid Colon Aganglionosis; Aganglionosis, Colonic; Colonic Aganglionosis; Megacolon, Congenital

Networked: 1212 relevant articles (20 outcomes, 117 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Enterocolitis
2.	Ganglion Cysts (Ganglion)
3.	Sepsis (Septicemia)
4.	Meningitis
5.	Constipation

Experts

1.	Puri, Prem: 16 articles (11/2015 - 10/2005)
2.	Amiel, Jeanne: 12 articles (01/2016 - 06/2002)
3.	Borrego, Salud: 10 articles (04/2015 - 11/2008)
4.	Hofstra, Robert M W: 10 articles (04/2015 - 02/2002)
5.	Goossens, Michel: 10 articles (07/2013 - 08/2002)
6.	Lane, Geoffrey J: 9 articles (12/2015 - 12/2002)
7.	Yamataka, Atsuyuki: 9 articles (12/2015 - 12/2002)
8.	Lyonnet, Stanislas: 8 articles (04/2015 - 06/2002)
9.	Weese-Mayer, Debra E: 7 articles (11/2015 - 02/2002)
10.	Lyonnet, S: 7 articles (07/2015 - 01/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hirschsprung Disease:

1.	AcetylcholinesteraseIBA 01/01/2008 - "Over the last four decades, acetylcholinesterase enzyme histochemistry has proven to be the gold standard for the diagnosis of Hirschsprung disease and is one of the most commonly applied enzyme histochemical methods today. " 09/01/2015 - "Rectal suction biopsy (RSB) combined with acetylcholinesterase (AChE) staining is currently the gold standard for the diagnosis of Hirschsprung's disease (HD). " 05/01/2015 - "Acetylcholinesterase (AChE) staining has become the gold standard for definitively diagnosing Hirschsprung disease (HD), although some pitfalls have been reported. " 06/15/1977 - "An improved method for the determination of acetylcholinesterase activity in rectal biopsy tissue from patients with Hirschsprung's disease." 09/01/2008 - "The purpose is to present the studies of RET gene expression and acetylcholinesterase activity in 23 patients operated for Hirschsprung's disease (HD). "
2.	calretininIBA 04/01/2013 - "To evaluate the efficacy of calretinin immunostaining in diagnosing Hirschsprung's disease (HD). " 07/01/2015 - "This study was undertaken to ascertain 1) clinical profile; 2) mode of presentation; 3) to evaluate the role of Calretinin immunostain in the diagnosis of Hirschsprung's Disease. " 05/01/2013 - "A study of calretinin in Hirschsprung pathology, particularly in total colonic aganglionosis." 06/01/2012 - "This study was designed to assess the utility of calretinin immunohistochemistry in the diagnosis of Hirschsprung's disease. " 07/01/2015 - "Hirschsprung's Disease in Neonates with Special Reference to Calretinin Immunohistochemistry."
3.	Anorectal atresiaIBA 10/01/2013 - "The aim of the present study was to assess, after adaptation to French, the only specific quality of life (QoL) instrument for children with Hirschsprung's disease or anorectal malformation, the Hirschsprung's disease/Anorectal Malformation Quality of Life questionnaire (HAQL), in order to get a standardized QoL evaluation instrument that could further be used to help health care improvement. " 10/01/2009 - "All patients with anorectal malformation and Hirschsprung's disease were included in the study. " 07/01/2015 - "Psychosexual Well-Being after Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease." 12/01/2014 - "Hirschsprung disease and anorectal malformation." 04/01/2014 - "Translation and cultural adaptation of the Hirschsprung's Disease/Anorectal Malformation Quality of life Questionnaire (HAQL) into Swedish."
4.	Eosine Yellowish-(YS) (Eosin)IBA 07/01/2015 - "The diagnosis of Hirschsprung's disease is based on a combination of clinical features, radiological appearance of the bowel and histological features in Haematoxylin & Eosin stained sections of intestinal biopsies. " 04/01/2009 - "Hirschsprung's disease diagnosis: Comparison of immunohistochemical, hematoxilin and eosin staining." 04/01/2011 - "The diagnosis of Hirschsprung's disease (HSCR) is based on the histopathological evaluation of rectal suction biopsies (RSB), using haematoxylin and eosin (H&E) stains and acetylcholinesterase (AChE) histochemistry. " 03/01/2010 - "The histological diagnosis of Hirschsprung's disease was made using haematoxylin and eosin as well as acetylcholinesterase on frozen section. " 08/01/1998 - "We retrospectively evaluated size and density of submucosal nerves on hematoxylin-eosin-stained sections and S100 protein-stained sections of resected segments from 13 patients with Hirschsprung's disease, and in sections of 20 aganglionic and 50 ganglionic rectal suction biopsies. "
5.	Hematoxylin (Haematoxylon)IBA 08/01/1998 - "We retrospectively evaluated size and density of submucosal nerves on hematoxylin-eosin-stained sections and S100 protein-stained sections of resected segments from 13 patients with Hirschsprung's disease, and in sections of 20 aganglionic and 50 ganglionic rectal suction biopsies. " 08/01/1998 - "To establish the diagnostic usefulness of submucosal hypertrophic nerve trunk morphology in Hirschsprung's disease as a quantifiable parameter supportive of aganglionosis on hematoxylin-eosin-stained sections. " 07/01/2009 - "During pull-through for Hirschsprung's disease (HSCR), the assessment of innervation is mainly based on the presence of ganglion cells when conventional Hematoxylin and Eosin (HE) staining is used. " 11/01/1990 - "The work reported here was carried out to study the importance of immunocytochemical staining of neuron-specific enolase (NSE) in the diagnosis of Hirschsprung's disease and to compare its results with those obtained by hematoxylin-eosin (H&E) staining in consecutive sections. " 06/01/2012 - "Immunohistochemistry for calretinin provided highly compatible results with hematoxylin-eosin findings in Hirschsprung's disease and non-Hirschsprung's disease patients, except in one Hirschsprung's disease patient with very rare nerve stainings at the distal surgical margin. "
6.	Neurotransmitter Agents (Neurotransmitter)IBA 03/01/2013 - "Altered neuronal density and neurotransmitter expression in the ganglionated region of Ednrb null mice: implications for Hirschsprung's disease." 05/01/2002 - "Widespread changes in neurotransmitter expression and number of enteric neurons and interstitial cells of Cajal in lethal spotted mice: an explanation for persisting dysmotility after operation for Hirschsprung's disease?" 10/01/1998 - "Lack of a docking mechanism for neurotransmitter release in the aganglionic segment of bowel in patients with Hirschsprung's disease." 01/01/2008 - "The absence of these receptors suggests the absence of the inhibitory neurotransmitter ATP, which may help to explain the contracted state of the aganglionic gut in Hirschsprung's disease." 06/01/2007 - "The aims of this study were to investigate the presence of CART-peptide in the normal ganglionic as well as aganglionic intestine from patients with Hirschsprung's disease and the peptide's possible coexistence with other neurotransmitters. "
7.	TeaIBA 08/01/2011 - "Our data showed that TEA increased the contractility of colon and rectum from rats and Hirschsprung's disease patients in vitro, suggesting that local administration of TEA in colon or rectum lumen might be an alternative method to ameliorate the syndrome of Hirschsprung's disease patients who are not cured completely by surgery or not suitable for surgery." 08/01/2011 - "The present study is to test the effect of TEA on motility of colon and rectum from rats and Hirschsprung's disease patients in vitro, in order to find an alternative method to improve the syndrome of Hirschsprung's disease. " 08/01/2011 - "TEA at 15 mM increased the amplitude and frequency of contractions of the colon and rectum from Hirschsprung's disease patients. "
8.	Currarino triadIBA 05/01/2013 - "Two patients were also suffering from the Currarino syndrome associated with Hirschsprung's disease and other, multiple malformations and a cloacal anomaly with anal imperforation, respectively. " 01/01/2013 - "Some causal genes for Currarino syndrome (CS) and Hirschsprung disease (HD) are currently investigated. " 01/01/2013 - "Currarino syndrome with Hirschsprung disease (CS-HD) is extremely rare. " 01/01/2013 - "Familial Currarino syndrome associated with Hirschsprung disease: two cases of a mother and daughter." 05/01/2006 - "The complete Currarino triad in the older sibling was associated with Hirschsprung's disease as the second reported case in the literature. "
9.	Polyethylene Glycols (Polyethylene Glycol)FDA LinkGeneric 02/01/2004 - "We prospectively evaluated the safety and efficacy of total gut irrigation (TGI) using normal saline with added potassium (NS) and polyethylene glycol (PG) in patients undergoing a variety of colorectal procedures including single-stage pull-through for Hirschsprung's disease (HD). " 03/13/2007 - "Ten patients with megacolon confirmed by barium enema examination, 4 males and 6 females, aged 38 (15 - 66), with a mean course of 10 years (2 weeks - 23 years), all complicated by severe constipation and 5 cases with colonic obstruction confirmed by X-ray examination, 1 being diagnosed as with Hirschsprung' disease, 3 secondary to chronic constipation, 1 with diabetes mellitus, 1 with a history of anorectal malformation, 4 with colonic pseudo-obstruction, and 4 with colonic pseudo-obstruction, were treated with combined conservative therapy including tegaserod (6 mg 2/d), polyethylene glycol (PEG) 4000 (20 - 40 g/d), and liuweianxiao (traditional Chinese medicine, 5 # 3/d). "
10.	PotassiumIBA 02/01/2004 - "We prospectively evaluated the safety and efficacy of total gut irrigation (TGI) using normal saline with added potassium (NS) and polyethylene glycol (PG) in patients undergoing a variety of colorectal procedures including single-stage pull-through for Hirschsprung's disease (HD). "

Therapies and Procedures

1.	Colostomy 05/01/1990 - "A two-point rectal mucosal biopsy (utilizing a histochemical study), namely biopsies at sites 5 to 10 mm and 30 to 50 mm oral to the dentate line, was developed to differentiate patients who can be treated adequately by rectal myectomy without colostomy and those who require other definitive surgery for Hirschsprung's disease. " 01/01/1984 - "This lack of response was independent of the length of aganglionosis or previous diverting colostomy and corresponded to the fact that on manometric study the intraluminal pressure of the anal canal fell in normal children but not in the children with Hirschsprung's disease. " 04/01/2014 - "Do geography and resources influence the need for colostomy in Hirschsprung's disease and anorectal malformations? " 02/01/2014 - "To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature." 12/01/2013 - "Anorectal malformations were the most common indication for a colostomy (32, 72.73%), followed by Hirschsprung's disease (11, 25%). "
2.	Enema (Enemas) 10/01/2006 - "At 43 days of life, the preoperative contrast enema study revealed a left colon transition zone, suggesting a Hirschsprung disease, which was confirmed by rectal biopsies. " 06/01/2015 - "The contrast enema (CE) is commonly utilized for suspected Hirschsprung disease (HD) patients. " 06/01/2015 - "The utility of the contrast enema in neonates with suspected Hirschsprung disease." 08/01/2013 - "The modified contrast enema improves the radiological diagnosis of Hirschsprung disease. " 08/01/2013 - "A contrast enema with signs of Hirschsprung disease in combination with an absent rectoanal inhibitory reflex had the specificity of 98% and sensitivity of 100% for Hirschsprung disease. "
3.	Tissue Therapy (Cell Therapy) 10/01/2015 - "This study provides a novel approach for studying EDNRB signalling in multiple organ systems in mature rats, including an animal model to study the efficacy of cell therapy to treat Hirschsprung disease." 10/01/2015 - "This early postnatal lethality limits their use for examining the potential of cell therapy to treat Hirschsprung disease, and for studies of the influence of EDNRB on the mature CNS and vascular systems. " 08/01/2015 - "ENS stem/progenitor cells used in this study appear to be clinically relevant donor cells in cell therapy to treat Hirschsprung's disease capable of colonizing the affected bowel and giving rise to neurons. " 12/01/2014 - "We endeavored to generate a model of permanent colonic aganglionosis to support longitudinal cell therapy studies. " 05/01/2013 - "They may open the route for the cell therapy of Hirschsprung's disease (HD). "
4.	Colectomy 04/01/1981 - "The remaining five patients with proven Hirschsprung's disease responded well to a pull-through resection (4) and to colectomy and anastomosis (1)." 11/14/1956 - "[Specimen from a left colectomy for congenital megacolon with histological study of nerve elements of Auerbach's plexus]." 10/01/2015 - "Nursing Intervention for Outpatient Rehabilitation in Pediatric Patients with Hirschsprung Disease after Colectomy." 01/01/2014 - "[Laparoscopic subtotal colectomy with mesorectumectomy in case of Hirschsprung's disease in adults]." 01/01/2014 - "Subtotal colectomy combined with modified Duhamel procedure (Jinling procedure) was used in patients with adult Hirschsprung's disease (AHD) at Jinling Hospital in the last decade. "
5.	Transplantation (Transplant Recipients) 03/01/2003 - "Improved quality of life by combined transplantation in Hirschsprung's disease with a very long aganglionic segment." 10/01/2015 - "Transplantation of enteric neural stem cells (ENSC) holds promise as a potential therapy for enteric neuropathies, including Hirschsprung disease. " 06/01/2012 - "The transplantation of neural crest derived stem cells (NCSC) is a potent alternative for the treatment of Hirschsprung's disease (HSCR). " 02/01/2012 - "The transplantation of neural crest derived stem cells (NCSC's) is a potent alternative for the treatment of Hirschsprung's disease (HSCR). " 06/01/2009 - "Advances in enteric nervous system (ENS) stem cell biology have raised the possibility of treating Hirschsprung's disease with ENS stem/progenitor cell (ENSPC) transplantation. "