AganglionosisCause of Hirschsprung diseaseChildren with Hirschsprung diseaseObstructionDysmotilityEtiologyCongenital megacolonEnterocolitisHarold HirschsprungHirschsprung's DiseaseEntericHSCRInflammatory bowel dBlockage of the intestineIntestinal disorderColonSegmentSepsisAnorectalSurgicalPassage of meconiumMutationsOccursLarge intestineGenesComplicationsAbsenceSevereAtresiaSporadicGastrointestinalSymptomsDiagnosisApproximatelyClinicalChronicNeonatalSegmentsPatients
Aganglionosis7
- This disease is characterized by a variable extent of contiguous aganglionosis extending from the anorectum proximally. (medscape.com)
- Intraoperative finding in total colonic aganglionosis. (medscape.com)
- Total colonic aganglionosis occurs in an estimated 2-13% of patients with Hirschsprung disease, and may extend proximally from the colon into varying lengths of the small bowel. (medscape.com)
- total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis). (medlineplus.gov)
- Mutations in the RET gene are the primary cause of Hirschsprung disease (HSCR), or congenital intestinal aganglionosis. (jci.org)
- Conditional ablation of Ret in postmigratory enteric neurons caused widespread neuronal death in the colon, which led to colonic aganglionosis. (jci.org)
- These mice recapitulated the genetic and phenotypic features of HSCR and developed colonic aganglionosis due to impaired migration and successive death of enteric neural crest-derived cells. (jci.org)
Cause of Hirschsprung disease1
- Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. (medlineplus.gov)
Children with Hirschsprung disease6
- Nearly all children with Hirschsprung disease are diagnosed during the first 2 years of life. (medscape.com)
- A small number of children with Hirschsprung disease are not recognized until much later in childhood or adulthood. (medscape.com)
- The outcome in infants and children with Hirschsprung disease is generally quite good. (medscape.com)
- Older children with Hirschsprung disease usually have chronic constipation since birth. (medscape.com)
- Despite significant constipation and abdominal distention, children with Hirschsprung disease rarely develop encopresis (fecal incontinence secondary to impacted stools). (medscape.com)
- Older infants and children with Hirschsprung disease usually present with chronic constipation. (nurseslabs.com)
Obstruction8
- Prenatal ultrasonography demonstrating bowel obstruction is rare, except in cases of total colonic involvement. (medscape.com)
- Hirschsprung´s disease (congenital megacolon ) is a common cause of lower bowel obstruction in neonates. (scielo.sa.cr)
- Its main characteristic is that a section of the bowel is unable to relax, causing functional colonic obstruction. (scielo.sa.cr)
- Although these conditions are all forms of colonic obstruction, they are different from atresia and stenosis and thus are more completely reviewed elsewhere. (medscape.com)
- In colonic atresia, the problem is complete bowel obstruction. (medscape.com)
- If a colonic obstruction is suspected, similar to in Hirschsprung disease, the appropriate distinction material is a barium enema virus 38 buy cheap azigram 100 mg on line . (zum-schwiizer.com)
- Hirschsprung's disease: Enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent). (nurseslabs.com)
- Congenital aganglionic megacolon , also called Hirschsprung disease , is characterized by persistent constipation resulting from partial or complete intestinal obstruction of mechanical origin. (nurseslabs.com)
Dysmotility2
- Dr. Grabowski is a board-certified pediatric surgeon with a special interest in the treatment of patients with anorectal malformations (imperforate anus, cloaca), Hirschsprung disease, colonic dysmotility and constipation, inflammatory bowel disease, and other colorectal and intestinal diseases. (luriechildrens.org)
- Colonic dysmotility in postsurgical patients with Hirschsprung's disease. (mcmaster.ca)
Etiology2
- The developmental etiology and pathogenesis of Hirschsprung disease. (medscape.com)
- Although the etiology of colonic atresia has traditionally been believed to be related to antenatal mesenteric vascular accidents, a 2005 study suggests that defects in the fibroblast growth factor 10 (FGF10) pathway may be involved. (medscape.com)
Congenital megacolon1
- There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON. (bvsalud.org)
Enterocolitis6
- [ 1 ] Early recognition and surgical correction of Hirschsprung disease protects affected infants from enterocolitis and debilitating constipation . (medscape.com)
- Left untreated, Hirschsprung disease is fatal due to bacteremia and then sepsis in the context of bowel inflammation (enterocolitis) or bowel perforation. (medscape.com)
- The overall mortality of Hirschsprung enterocolitis is 25-30%, which accounts for almost all of the mortality from Hirschsprung disease. (medscape.com)
- This is often referred to as Hirschsprung-associated enterocolitis. (rarediseases.org)
- Hirschsprung-associated enterocolitis is the most frequent complication of HSCR occurring in 30-40% of individuals with HSCR and can be mild to severe in nature. (rarediseases.org)
- Some individuals with either severe or untreated Hirschsprung-associated enterocolitis may develop sepsis, which is a widespread bacterial infection of the bloodstream and is potentially life-threatening. (rarediseases.org)
Harold Hirschsprung1
- [ 1 ] was first described in 1886 by Harold Hirschsprung as a cause of constipation in early infancy. (medscape.com)
Hirschsprung's Disease15
- Henderson D, Zimmer J, Nakamura H, Puri P. Hirschsprung's disease in twins: a systematic review and meta-analysis. (medscape.com)
- Heanue TA, Pachnis V. Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies. (medscape.com)
- Okamoto E, Takashi U. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. (medscape.com)
- Langer JC, Betti PA, Blennerhassett MG. Smooth muscle from aganglionic bowel in Hirschsprung's disease impairs neuronal development in vitro. (medscape.com)
- The research on screening differentially expressed genes in Hirschsprung's disease by using Microarray. (medscape.com)
- Electrophysiological properties of the aganglionic segment in Hirschsprung's disease. (medscape.com)
- the clinical and epidemiological characteristics of the cases of Hirschsprung's Disease analyzed are similar to those reported in the literature. (scielo.sa.cr)
- Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. (scielo.sa.cr)
- Early diagnosis and management avoids the potential complications of patients with Hirschsprung's disease. (scielo.sa.cr)
- Upon approval of the study by the institutional bioethics committee, the medical records were reviewed as population taking all patients discharged from the National Children's Hospital diagnosed with Hirschsprung's disease from January 2000 to December 2010. (scielo.sa.cr)
- Patients with the diagnosis of Hirschsprung's disease were included during the established term, who had undergone surgery. (scielo.sa.cr)
- Cases with incomplete records and all patients who had Hirschsprung's disease ruled out were excluded from the analysis. (scielo.sa.cr)
- Diseases of the large intestine which may require surgical removal include Crohn's disease, ulcerative colitis, familial adenomatous polyposis, and total colonic Hirschsprung's disease. (wikipedia.org)
- Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. (biomedcentral.com)
- Ileostomy stoma site biopsy revealed lack of ganglion cells, suggesting total colon Hirschsprung's disease. (biomedcentral.com)
Enteric2
- Hirschsprung disease results from the absence of enteric neurons within the myenteric and submucosal plexus of the rectum and/or colon. (medscape.com)
- Death of enteric neurons was also induced in the colon, where reduction of Ret expression was induced after the period of enteric neural crest cell migration, indicating that diminished Ret expression directly affected the survival of colonic neurons. (jci.org)
HSCR1
- Hirschsprung disease (HSCR) is a birth defect. (rarediseases.org)
Inflammatory bowel d1
- Nevertheless, people who have an ileostomy as treatment for inflammatory bowel disease typically find they can enjoy a more "normal" diet than they could before surgery. (wikipedia.org)
Blockage of the intestine1
- Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. (medlineplus.gov)
Intestinal disorder2
- Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. (medlineplus.gov)
- Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. (symptoma.com)
Colon9
- Ileostomies are necessary where injury or a surgical response to disease has meant the large intestine cannot safely process waste, typically because the colon and rectum have been partially or wholly removed. (wikipedia.org)
- In some patients with Crohn's disease, a procedure called an ileoanal anastomosis is done if the disease affects the entire colon and rectum, but leaves the anus unaffected. (wikipedia.org)
- In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). (medlineplus.gov)
- colonic stenosis is a condition in which a part of the colon is very narrow, resulting in a partial blockage. (medscape.com)
- It has been known that histological distribution of VIP and substances P in the colon in Hirschsprung's disease is influenced in some degree by immunohistochemical procedure. (go.jp)
- In this study, we have investigated the alteration of VIP and substance P distribution in the colon of Hirschsprung's disease by PAP immunohistochemistry of Sternberger. (go.jp)
- The colonic tissue of the narrow segment, including the adjacent proximal dilated colon, was obtained from two patients of Hirschsprung's disease. (go.jp)
- Here, we report the case of a 56-year-old man with colonic pseudoobstruction and ulcerations in marked dilated colon above transitional zone who was later diagnosed with colonic hypoganglionosis. (sch.ac.kr)
- Because water is normally absorbed from the colonic content, principally in the ascending, or right, colon, diarrhea can be caused by any inflammatory, neoplastic, or vascular disturbance of that part of the colon. (britannica.com)
Segment8
- This predisposition is more common in patients with longer-segment disease. (medscape.com)
- Treatment for this disease requires the resection of the abnormal bowel segment in order to restore the functions of the healthy part of the intestine. (scielo.sa.cr)
- There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. (medlineplus.gov)
- For unknown reasons, short-segment disease is four times more common in men than in women. (medlineplus.gov)
- Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. (medlineplus.gov)
- Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. (medlineplus.gov)
- Gas and stool cannot pass, and the colonic segment above the atresia becomes distended. (medscape.com)
- Transition zone ratio (the transverse diameter ratio of the most dilatated colonic segment proximal to the transition zone to the narrowed colonic segment distal to the transition zone) was 8.75. (sch.ac.kr)
Sepsis1
- This may progress to colonic perforation, causing life-threatening sepsis. (medscape.com)
Anorectal1
- Alison Osborne is an advanced practice nurse in the Division of Pediatric Surgery specializing in the surgical care and treatment of children with a variety of congenital and acquired conditions with a particular focus on anorectal and intestinal diseases. (luriechildrens.org)
Surgical1
- 5-9 Disease management has evolved over the years from very invasive procedures performed in several stages including three surgeries, to minimally invasive procedures carried out in a single surgical intervention. (scielo.sa.cr)
Passage of meconium2
- Hirschsprung disease should be considered in any newborn with delayed passage of meconium or in any child with a history of chronic constipation since birth. (medscape.com)
- During the newborn period, infants affected with Hirschsprung disease may present with failure of passage of meconium. (nurseslabs.com)
Mutations4
- Functional analyses of RET mutations in Chinese Hirschsprung disease patients. (medscape.com)
- Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET , EDNRB , and EDN3 genes. (medlineplus.gov)
- Mutations in the RET gene that cause Hirschsprung disease result in a nonfunctional version of the RET protein that cannot transmit signals within cells. (medlineplus.gov)
- Hirschsprung disease that occurs as an isolated problem has been associated with mutations in several different genes. (rarediseases.org)
Occurs2
- Hirschsprung disease occurs in approximately 1 per 5000 live births. (medscape.com)
- Hirschsprung disease occurs in approximately 1 in 5,000 newborns. (medlineplus.gov)
Large intestine3
- Hirschsprung disease is a congenital condition that affects the large intestine, resulting in a lack of nerve cells in certain segments of the bowel . (nurseslabs.com)
- A wide variety of diseases and disorders occur in the large intestine. (britannica.com)
- Aganglionic megacolon , or Hirschsprung disease, is a condition of unknown cause that is characterized by the absence of ganglion cells and normal nerve fibres from the distal (or lower) 3 to 40 cm (1 to 16 inches) of the large intestine. (britannica.com)
Genes2
- Other genes associated with Hirschsprung disease include the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene. (medscape.com)
- A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered or "activated" under certain circumstances, such as due to particular environmental factors (multifactorial inheritance). (rarediseases.org)
Complications2
- Alert patients and their families to potential preoperative and postoperative complications of Hirschsprung disease. (medscape.com)
- Hirschsprung disease is typically diagnosed in infancy or early childhood, and prompt recognition and intervention are vital to prevent severe complications. (nurseslabs.com)
Absence1
- Absence of these nerves leads to the intestinal problems characteristic of Hirschsprung disease. (medlineplus.gov)
Severe1
- In some cases, aganglionic megacolon or Hirschsprung disease may be severe enough to be recognized. (nurseslabs.com)
Atresia1
- Colonic atresia and congenital stenosis are uncommon lesions. (medscape.com)
Sporadic1
- The majority of Hirschsprung cases are sporadic. (medscape.com)
Gastrointestinal1
- In this article we will discuss the congenital gastrointestinal obstructions and also some acquired diseases that present as an acute abdomen in the neonate. (radiologyassistant.nl)
Symptoms1
- GI-related symptoms similar to [[celiac disease]] - malabsorption. (librepathology.org)
Diagnosis1
- Das K, Mohanty S. Hirschsprung disease - current diagnosis and management. (medscape.com)
Approximately4
- Hirschsprung disease is approximately four times more common in males than females. (medscape.com)
- Approximately one half of children affected with this disease are diagnosed before they are aged 1 year. (medscape.com)
- Approximately 10% of Hirschsprung patients have a family member who was also affected. (medscape.com)
- This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. (medlineplus.gov)
Clinical2
- This results in clinical Hirschsprung disease. (medscape.com)
- Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes. (medscape.com)
Chronic1
- Most degenerative/chronic diseases are actually diseases of nutrition or are worsened by poor nutrition. (logan.org)
Neonatal1
- This disease is observed in the neonatal stages of early life. (symptoma.com)
Segments1
- A discrepancy between the colonic segments above and below the area of stenosis is present. (medscape.com)
Patients2
- 5-15% of patients with Hirschsprung disease also have trisomy 21. (medscape.com)
- RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. (medscape.com)