| name | description | evidence |
|---|---|---|
| Short-Segment Hirschsprung Disease | Affects the rectum and a short segment of the distal colon. | TRUNCATED |
| Long-Segment Hirschsprung Disease | Affects a longer segment of the colon beyond the rectum. | TRUNCATED |
| Total Colonic Aganglionosis | Affects the entire colon and sometimes the small intestine. | TRUNCATED |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:25066220 | REFUTE | The total prevalence was 1.09 (95% confidence interval, 1.03-1.15) per 10,000 births. | The prevalence of Hirschsprung's disease is reported to be approximately 1.09 per 10,000 births, which translates to 0.0109%. This is higher than the stated range of 0.0001-0.001%. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:2039180 | SUPPORT | Hirschsprung disease has become a neonatal diagnosis. Most cases identified now are children who would previously have died before the diagnosis of their condition which was usually established only after the age of two. | The literature states that Hirschsprung's disease is typically diagnosed during the neonatal phase, supporting the statement. |
| PMID:4060039 | SUPPORT | This review of Hirschsprung's disease reflects the authors' experience with it and outlines the current recommendations for management of its various manifestations. | While the abstract does not explicitly specify the neonatal phase, it mentions current management practices and experiences, implying early diagnosis and treatment. |
| PMID:25066220 | SUPPORT | Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. | Although this does not explicitly state the neonatal onset, congenital disorders are typically identified at birth or soon after, thus supporting the statement indirectly. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:33202966 | SUPPORT | Hirschsprung's disease is a neurocristopathy, caused by defective migration, proliferation, differentiation and survival of neural crest cells, leading to gut aganglionosis. | The article describes Hirschsprung's disease as being caused by defective migration of neural crest cells during embryonic development, which results in aganglionosis (absence of ganglion cells) in the bowel. |
| PMID:36417785 | SUPPORT | Derived from neural crest cells (NCCs), this little brain controls muscle contraction, motility, and bowel activities in response to stimuli. Failure of developing enteric ganglia at the distal bowel results in intestinal obstruction and Hirschsprung disease (HSCR). | The literature explains that Hirschsprung disease results from the failure of developing enteric ganglia, which are derived from neural crest cells, supporting the notion of defective migration leading to absent ganglion cells. |
| PMID:23342068 | SUPPORT | Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a disruption of neural crest cell migration during embryonic development. | This publication clearly states that disruption of neural crest cell migration during embryonic development leads to Hirschsprung disease. |
| PMID:8660047 | SUPPORT | Current evidence on the pathogenesis of Hirschprung's disease, then, favours the 'abnormal microenvironment' hypothesis wherein the developing and migrating normal neural crest cells confront a segmentally abnormal and hostile microenvironment in the colon. | This reference supports the idea that Hirschsprung's disease involves issues with neural crest cell migration, although it adds the perspective of an abnormal microenvironment in the colon. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:20610192 | SUPPORT | Hirschsprung's disease (HSCR) is characterized by the absence of the enteric nervous system in a variable portion of the distal gut. | The absence of ganglion cells (aganglionosis) leads to disruption in enteric nervous system function and subsequent bowel motility issues. |
| PMID:27426273 | SUPPORT | Abnormal development or disturbed functioning of the enteric nervous system (ENS), the intrinsic innervation of the gastrointestinal tract, is associated with the development of neuropathic gastrointestinal motility disorders. | The lack of ganglion cells disrupts ENS function, leading to motility problems. |
| PMID:23917331 | SUPPORT | The pathogenesis of HD is defined as a functional intestinal obstruction resulting from a defect in the intrinsic innervation of the distal bowel. | A defect in the ENS due to the lack of ganglion cells causes motility issues. |
| PMID:19782302 | SUPPORT | Symptoms of abdominal discomfort are frequently encountered in the daily practice of pediatricians and pediatric surgeons. Normal peristalsis depends on the interaction between muscles, nerve cells, and tendinous connective tissue of muscularis propria. Malfunction of any of these components results in a motility disorder. Aganglionosis, typically of the left distal colon, is the cause of Hirschsprung disease. | Aganglionosis (lack of ganglion cells) leads to motility issues due to disrupted ENS function. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:37403154 | SUPPORT | Hirschsprung's disease in adults is usually a short or ultra-short aganglionic segment because it shows relatively mild symptoms. Surgical removal of the aganglionic segment of the gut is the definitive treatment for Hirschsprung's disease. | This reference supports the diagnostic category of chronic constipation in Hirschsprung disease. |
| PMID:34882271 | SUPPORT | Children with constipation and suspected Hirschsprung's disease are referred for rectal biopsy. | This reference supports the association between chronic constipation and Hirschsprung's disease. |
| PMID:8701840 | SUPPORT | Failure to thrive and gross distention of the abdomen suggest the diagnosis of Hirschsprung's disease. | This reference provides a direct link between failure to thrive (a symptom that may include chronic constipation) and Hirschsprung’s disease, supporting the diagnostic category. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:23001136 | SUPPORT | Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. | The reference indicates that HSCR is a frequent cause of a gastrointestinal issue, supporting a high frequency of gastrointestinal phenotypes associated with the disease. |
| PMID:18959706 | SUPPORT | Abdominal distension and vomiting were most common modes of presentation (100 and 71%, respectively). | The reference explicitly states that abdominal distension is a common phenotype for Hirschsprung Disease, which supports the statement. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:23043324 | PARTIAL | Clinical signs include severe constipation and distended bowel due to a non-motile colon. | This reference describes gastrointestinal symptoms but does not specifically mention delayed meconium passage. |
| PMID:6481580 | PARTIAL | Eleven infants passed a meconium stool by 24 hours of age (42%), and 15 had passed meconium by 48 hours (58%). | This indicates that while a significant portion of infants with Hirschsprung Disease passed meconium within 48 hours, it was not universal. |
| PMID:35142873 | SUPPORT | The pooled incidence of delayed meconium passage was 48% (P < 0.001). | This reference provides strong evidence that delayed meconium passage is a common phenotype in Hirschsprung Disease. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:29300049 | PARTIAL | Symptoms of Hirschsprung disease include constipation, vomiting, abdominal distension and growth failure. | Failure to thrive can be inferred from growth failure, but it is not explicitly labeled as a common systemic phenotype. |
| PMID:35690467 | PARTIAL | Counseling parents is critical for ensuring they understand their child's condition, how it must be treated, pitfalls that can occur during treatment, and how they will do in the long term ... outcomes, and familial nature. | While the actual term 'failure to thrive' is not used, the discussion around growth and long-term outcomes implies potential issues with growth. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:32942321 | PARTIAL | This case report provides an overview of a family with a history of HD with a novel, unreported autosomal dominant RET mutation... The family examined in this study clearly demonstrates that (1) the genotype to phenotype correlation of patients with RET mutation-associated HD is not directly related, and (2) genetic mechanisms underlying the different HD phenotypes, as well as the model of inheritance of HD, are complex and not yet fully understood. | While the study identifies an autosomal dominant RET mutation in a family with Hirschsprung Disease, it also indicates that the genetic mechanisms are complex and not fully understood, suggesting that autosomal dominant RET mutations may be one of several contributing genetic factors. |
| PMID:9718653 | PARTIAL | Ret proto-oncogene, at 10q11.2… appears to account for only a relatively small number of HD cases (20% in the case of RET). | The RET gene is implicated in Hirschsprung Disease, but only accounts for a minority of cases, indicating not all RET mutations strictly follow an autosomal dominant pattern. |
| PMID:24972642 | PARTIAL | The co-occurrence of Hirschsprung's disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event... a 'Janus' mutation in the RET proto-oncogene -- a mutation that acts simultaneously as both a gain-in-function and a loss-of-function mutation. | This supports the association between RET mutations and Hirschsprung Disease but also suggests a rare and complex interaction with certain mutations displaying dual functions. |
| PMID:11955539 | PARTIAL | Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease... both RET alleles have a role in pathogenesis of Hirschsprung's disease, in a dose-dependent fashion. | RET mutations are implicated in Hirschsprung Disease, but the inheritance pattern may be more complex than simply autosomal dominant. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:38253735 | SUPPORT | HSCR, a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. | The paper discusses the association of EDNRB germline mutations with Hirschsprung disease, supporting the genetic association. |
| PMID:9359036 | SUPPORT | Genes involved include RET, GDNF, EDNRB and EDN3. Mutations of these genes may give dominant, recessive, or polygenic patterns of inheritance. | The text supports the genetic association of Hirschsprung Disease with EDNRB mutations, noting that such mutations can follow autosomal recessive inheritance. |
| PMID:9718653 | SUPPORT | HD mutations have been mapped to a number of genes, i.e., RET proto-oncogene, at 10q11.2; the recessive EDNRB gene, located at 13q22; its ligand endothelin 3 (EDN3); and the glial cell line-derived neurotrophic factor (GDNF) in humans. | The paper mentions that mutations in the recessive EDNRB gene are implicated in Hirschsprung Disease. |
| PMID:11434563 | SUPPORT | Mutations in the genes encoding the endothelin type-B receptor (EDNRB) and its physiological ligand endothelin 3 (EDN3) are now known to account for the majority of HSCR II patients. | This reference directly supports the association of EDNRB mutations with Hirschsprung disease, subtype autosomal recessive. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:9359036 | PARTIAL | Genes involved include RET, GDNF, EDNRB and EDN3. Mutations of these genes may give dominant, recessive, or polygenic patterns of inheritance. | The reference suggests that mutations in GDNF can contribute to Hirschsprung disease and may exhibit dominant, recessive, or polygenic inheritance patterns. It does not confirm exclusively autosomal dominant inheritance. |
| PMID:9473110 | PARTIAL | GDNF mutations were found in association with RET protooncogene mutations in Hirschsprung patients. Mutations in GDNF per se are thought neither necessary nor sufficient to cause Hirschsprung's disease (HD). | This indicates GDNF mutations can be involved in Hirschsprung disease, typically in conjunction with other factors such as RET mutations, and does not specify autosomal dominant inheritance exclusively. |
| PMID:9718653 | PARTIAL | GDNF may modulate the disease phenotype by interacting with other susceptibility loci (e.g., RET). | While GDNF is implicated in the disease, the text does not isolate it to an autosomal dominant inheritance pattern but suggests interaction with other loci. |
| PMID:39377512 | NO_EVIDENCE | However, these findings were not fulfilled to explain the heritability of most sporadic cases. | Though relevant to genetic mutations contributing to Hirschsprung disease, there is no specification of autosomal dominant inheritance regarding GDNF. |
| PMID:8852660 | NO_EVIDENCE | These data might suggest that EDNRB mutations could be dosage sensitive: heterozygosity would predispose to isolated HSCR with incomplete penetrance, while homozygosity would result in more complex neurocristopathies. | The excerpt pertains to EDNRB mutations and does not provide evidence regarding GDNF mutations being autosomal dominant. |
| PMID:36564622 | NO_EVIDENCE | Our report, therefore, reveals a recognizable autosomal-recessive human KIF26A deficiency phenotype characterized by severe ENS dysfunction and a range of brain malformations. | This reference is about mutations in KIF26A, not GDNF, and discusses autosomal recessive patterns. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:27307146 | PARTIAL | Children with HSCR were born at an earlier gestational age (OR 1.60; CI 1.18-2.17) than control children. Associated malformations were identified in 34.5% of the cases. | This reference partially supports the statement by indicating that children with Hirschsprung Disease (HSCR) are often born at an earlier gestational age, which is a perinatal factor. However, it does not provide comprehensive evidence that perinatal factors are a primary environmental cause of HSCR. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:23615177 | SUPPORT | Surgical techniques are available to remove the aganglionic bowel and reconstruct the intestinal tract. | The article confirms that the removal of the aganglionic segment is a treatment for Hirschsprung disease. |
| PMID:27526297 | SUPPORT | Surgical management of Hirschsprung disease requires resection of the aganglionic bowel and transition zone. | The article specifically mentions the resection of the aganglionic bowel as part of surgical management. |
| PMID:35343667 | SUPPORT | Per-rectal endoscopic myotomy...to open spastic aganglionic bowel segments by performing a myotomy through a submucosal tunnel. | Although it is a different procedure, the focus is still on dealing with aganglionic bowel segments. |
| PMID:34398296 | SUPPORT | The entire colons in the both cases were finally resected, and a pull-through operation was performed. | This reference supports the resection of the aganglionic segment as a treatment. |
| PMID:20301612 | SUPPORT | Treatment of manifestations: Resection of the aganglionic segment and anastomosis of proximal bowel to the anus ('pull-through') is the standard treatment for HSCR. | This retired chapter supports that removal of the aganglionic segment is a standard practice. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:15770590 | SUPPORT | The transanal pull-through consists of a rectal mucosectomy, resection of the aganglionic bowel and a colo-anal anastomosis. | This procedure involves connecting the normal ganglionated bowel to the anus to restore bowel function. |
| PMID:31759654 | SUPPORT | A review of a single-center HD cohort treated with pull-through surgery. | The study assesses outcomes in patients treated with pull-through surgery, confirming it's a treatment for Hirschsprung Disease. |
| PMID:21789665 | SUPPORT | Most patients with Hirschsprung's disease (HD) have a satisfactory outcome after pull-through (PT) operation. | The pull-through operation is described as a standard treatment, which aligns with the statement. |
| PMID:24156691 | SUPPORT | The natural orifice translumenal endoscopic surgery (NOTES) procedure may be a safe and feasible option for the surgical treatment of long-segment Hirschsprung''s disease. | The use of a variant pull-through procedure (NOTES) involves connecting normal ganglionated bowel to the anus. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:12048463 | SUPPORT | Hirschsprung's disease is a congenital abnormality of the bowel that results in loss of peristalsis, and is one of the main reasons why an infant may require a stoma soon after birth. | This reference indicates that infants with Hirschsprung's disease may require a stoma, which could be interpreted as either temporary or permanent. |
| PMID:29607805 | SUPPORT | More than 75% of all stomata are placed as part of the treatment of colorectal cancer. The incidence of stoma-related complications is reported to be 10-70%. | While this reference focuses more on colorectal cancer, it notes the use of stomata in treatment, which is relevant to the statement that stomata (ostomies) can be used in Hirschsprung disease, supporting the general use of ostomies in bowel-related treatments. |
| PMID:29722891 | SUPPORT | Fecal diversion with ostomy construction can be a temporary or definitive surgical measure for the treatment of refractory inflammatory bowel disease (IBD). | This reference supports the use of ostomies as either temporary or permanent solutions for certain bowel conditions, analogous to their use in Hirschsprung disease. |
| PMID:26181500 | SUPPORT | Three patients were treated with surgical decompression and ileostomy only. In all these cases, severe complications occurred, consequently 2 of them died. | This reference indicates that ileostomy—a type of stoma—was used as part of the surgical treatment for complications associated with Hirschsprung disease. |
| PMID:31759654 | SUPPORT | Patients who 'failed' treatment were defined as above five years with one or more of: a) long-term stoma, ... with follow-up for at least 1 year. One year after the procedure the 3 patients were stooling one to three times per day, with no fecal soiling or constipation. | This reference supports the statement by mentioning that some patients require long-term stoma following treatment for Hirschsprung disease, fitting the description of temporary or permanent stoma creation. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:36996880 | SUPPORT | Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. | The literature directly states that the absence of ganglion cells in a rectal biopsy is the gold standard for diagnosing Hirschsprung's disease. |
| PMID:26527582 | SUPPORT | The gold standard for the diagnosis of Hirschsprung''s disease (HSCR) is the pathologic evaluation of a rectal biopsy that demonstrates the absence of ganglion cells. | The literature confirms that the absence of ganglion cells in a rectal biopsy is the definitive diagnostic criterion for Hirschsprung's disease. |
| PMID:36171348 | SUPPORT | Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. | This reference supports the claim that a rectal biopsy showing absent ganglion cells confirms the diagnosis of Hirschsprung disease. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:11075600 | PARTIAL | The barium enema is a good initial screening test for Hirschsprung's disease in severely constipated children since it correlates well with manometry and biopsy. | While the barium enema is considered a good initial screening tool, a normal result does not exclude Hirschsprung's disease, and more invasive procedures may be necessary for a definitive diagnosis. |
| PMID:15278325 | PARTIAL | The concordance between the radiographic transition zone and pathologic extent of aganglionic bowel was 62.5%. | Although the barium enema can identify the transition zone, it is not always reliable, particularly in cases of long-segment Hirschsprung's disease. |
| PMID:25803244 | PARTIAL | We confirm that CE is a valuable tool for HD diagnosis; however, it should only be performed for subsequent diagnostic and surgical planning following histological confirmation of HD by RB. | Contrast enema is useful for Hirschsprung's disease diagnosis but should be used in conjunction with other diagnostic methods like rectal biopsy for accurate results. |
| PMID:17164511 | PARTIAL | The recto-sigmoid index and transitional zone agreed with the histopathologic diagnosis in 79% and 87% of the cases, respectively. | While the barium enema can help identify the transition zone, its diagnostic accuracy varies and is not definitive across different age groups. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:4032175 | SUPPORT | We found that anorectal manometry, a rapid and atraumatic test, is a reliable screening test for exclusion of neonatal Hirschsprung's disease. | This study confirms that anorectal manometry is a reliable screening test for Hirschsprung's disease by evaluating anal tone, anal rhythmicity, and internal sphincter relaxation during rectal distention. |
| PMID:11329578 | SUPPORT | The diagnosis of IASA is made on anorectal manometry, which shows the absence of rectosphincteric reflex on rectal balloon inflation. | The absence of rectosphincteric reflex on anorectal manometry helps in diagnosing conditions that are similar to Hirschsprung's disease. |
| PMID:7845407 | SUPPORT | We conclude that an impaired squeeze response is a specific feature of anorectal function in Parkinson's disease. | The snippet confirms the relevance of anorectal manometry in assessing anorectal function, indirectly supporting its utility in diagnosing conditions like Hirschsprung's disease. |
| PMID:29212617 | SUPPORT | The diagnostic accuracy of HRAM (based on the ASRI10 value) is greater than that of conventional ARM for Hirschsprung disease. | High-resolution anorectal manometry based on ASRI10 values proves effective in diagnosing Hirschsprung disease. |
| PMID:6666366 | SUPPORT | Rectal myenteric nerve plexus stimulation is a theoretical alternative for the diagnosis of Hirschsprung's disease. | This study suggests manometric techniques including stimulation of the rectal myenteric nerve plexus as potentially useful in diagnosing Hirschsprung's disease. |