ReviewNature reviews. Gastroenterology & hepatology2018
Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.
Review in Nature reviews. Gastroenterology & hepatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 157 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
157 citing papers in PubMed, 4 syntheses or guidelines pooled it, 298 citations in OpenAlex.
- Nutritional management of neonates who undergo major surgery for gastrointestinal disorders: a joint position paper of the Italian Society of Neonatology (SIN), the Italian Society of Pediatric Surgery (SICP), and the Italian Society of Pediatric Nutrition (SINUPE).Italian journal of pediatrics · 2026Guideline
- Bibliometric analysis of clinical treatment in Hirschsprung disease: trends and emerging hotspots.Frontiers in pediatrics · 2026Pooled it
- Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee.Journal of pediatric surgery · 2021Pooled it
- ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS.Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery · 2019Pooled it
- Macrophage-enteric nervous system crosstalk in Hirschsprung disease and associated enterocolitis: a focused narrative review with clinical implications.Pediatric surgery international · 2026Review
- Subtypes of Enteric Neurons in Hirschsprung Disease: A Comparison of Fully Ganglionic and Transitional Zone.Neurogastroenterology and motility · 2026Article
- RNA methylation and the potential role of folate supplementation in preventing Hirschsprung disease.European journal of nutrition · 2026Article
- Permanent enterostomy in Hirschsprung disease: can we predict which patients are at risk?Pediatric surgery international · 2026Article
- Functional maturation of enteric neurons derived from human induced pluripotent stem cells.Stem cell reports · 2026Article
- Article
- Visualization of peripheral nerves in developing and regenerating limbs using a novel peripherin reporter line of Xenopus laevis.Biology open · 2026Article
- Functional role of the enteric nervous system in poultry intestinal health and production.Poultry science · 2026Review
- Dual roles of GDNF in enteric glial cell plasticity: direct transdifferentiation via the CaMKII/NeuroD1 pathway and cooperative regulation in a neural stem cell-inducing medium.Stem cell research & therapy · 2026Article
- Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.Journal of pediatric gastroenterology and nutrition · 2026Article
- Integrated genomic analysis of EDNRB common and rare variants in Hirschsprung disease.Genes & diseases · 2026Article
- DNER as a novel protein contributes to HSCR pathogenesis: multi-omics combined Mendelian randomization analysis.Pediatric research · 2026Article
- Review
- Microplastics and neurotoxicity: could prenatal exposure to microplastics boost congenital enteric neuropathies?Frontiers in toxicology · 2026Review
- The gut microbiota-enteric nervous system axis: from bidirectional programming to precision therapeutics in digestive diseases.Frontiers in cellular and infection microbiology · 2026Review
- Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice.Acta neuropathologica communications · 2025Article
97 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel. The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates most aspects of bowel function. When the ENS is missing, there are no neurally mediated propulsive motility patterns, and the bowel remains contracted, causing functional obstruction. Symptoms of Hirschsprung disease include constipation, vomiting, abdominal distension and growth failure. Untreated disease usually causes death in childhood because bloodstream bacterial infections occur in the context of bowel inflammation (enterocolitis) or bowel perforation. Current treatment is surgical resection of the bowel to remove or bypass regions where the ENS is missing, but many children have problems after surgery. Although the anatomy of Hirschsprung disease is simple, many clinical features remain enigmatic, and diagnosis and management remain challenging. For example, the age of presentation and the type of symptoms that occur vary dramatically among patients, even though every affected child has missing neurons in the distal bowel at birth. In this Review, basic science discoveries are linked to clinical manifestations of Hirschsprung disease, including partial penetrance, enterocolitis and genetics. Insights into disease mechanisms that might lead to new prevention, diagnostic and treatment strategies are described.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.