A Doença de Hirschsprung (DH) é uma condição intestinal congênita (de nascença) que afeta o movimento do intestino. Ela se caracteriza por sinais de obstrução intestinal, ou seja, de que o intestino está bloqueado ou entupido. Isso ocorre porque uma parte, de tamanho e extensão variáveis, na porção final do intestino grosso, não possui as células nervosas necessárias para o seu funcionamento adequado.
Introdução
O que você precisa saber de cara
A Doença de Hirschsprung (DH) é uma condição intestinal congênita (de nascença) que afeta o movimento do intestino. Ela se caracteriza por sinais de obstrução intestinal, ou seja, de que o intestino está bloqueado ou entupido. Isso ocorre porque uma parte, de tamanho e extensão variáveis, na porção final do intestino grosso, não possui as células nervosas necessárias para o seu funcionamento adequado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
14 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable.
Converts big endothelin-1 to endothelin-1
Cell membrane
Hirschsprung disease, cardiac defects, and autonomic dysfunction
A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.
Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134). Involved in the regulation of myeloid cell differentiation (PubMed:27416908)
Cell membraneSecreted
Lethal congenital contracture syndrome 2
A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology.
Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3
CytoplasmNucleus
Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN, PSPN and GDF15) (PubMed:20064382, PubMed:20616503, PubMed:20702524, PubMed:21357690, PubMed:21454698, PubMed:24560924, PubMed:28846097, PubMed:28846099, PubMed:28953886, PubMed:31118272). In contrast to most receptor tyrosine kinases, RET requires not onl
Cell membraneEndosome membrane
Hirschsprung disease 1
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into pero
Peroxisome membraneMitochondrion membraneLysosome membraneEndoplasmic reticulum membrane
Adrenoleukodystrophy
A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
Endothelins are endothelium-derived vasoconstrictor peptides
Secreted
Hirschsprung disease 4
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity) Key transcription factor that regulates expression of genes involved in cholest
Endoplasmic reticulum membraneGolgi apparatus membraneCytoplasmic vesicle, COPII-coated vesicle membraneNucleus
IFAP syndrome 2
An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa.
Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell memb
Cell membraneCell projection, ruffle membraneEarly endosomeCytoplasm, perinuclear regionNucleusCytoplasm
Glioma
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:25242331, PubMed:31535977). Involved in the development of the neural crest (PubMed:15242795)
Secreted
Hirschsprung disease 3
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity)
Secreted
Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system
Cell membrane
Waardenburg syndrome 4A
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Growth factor that supports the survival of sympathetic neurons in culture (PubMed:8945474). May regulate the development and maintenance of the CNS (PubMed:8945474). Involved in the development of the neural crest (PubMed:15242795). Might control the size of non-neuronal cell population such as haemopoietic cells (PubMed:8945474). Acts by binding to its coreceptor, GFRA2, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:29414779, PubMed:31535977). Hepar
Secreted
ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to
Golgi apparatus, trans-Golgi network membraneCell membraneMelanosome membraneEarly endosome membraneCell projection, axonCell projection, dendritePostsynaptic densityCytoplasm, cytosolEndoplasmic reticulum
Menkes disease
An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity)
Secreted
Variantes genéticas (ClinVar)
627 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 908 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
58 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de Hirschsprung
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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71 ensaios clínicos encontrados, 18 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.415
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.
Hirschsprung disease (HSCR) is a congenital condition featuring aganglionosis in the distal colon, causing functional obstruction. While EGF and bFGF are well-characterized neurogenic factors, the precise mechanistic role of GDNF in modulating enteric glial cell plasticity remains incompletely understood. EGCs were identified via proteomic profiling and immunofluorescence in Ednrb⁻/⁻ mice modeling HSCR. EGC/PK060399egfr and primary EGCs were induced with neural stem cell-inducing medium (NSC-Med). Morphological changes, EdU assay, immunofluorescence, RT‒qPCR, and Western blotting were employed to assess the expression of stemness- and neuron-associated markers. Metabolomic and transcriptomic analyses were performed to evaluate metabolic remodeling and signaling pathways. Following treatment with NSC-Med, immunofluorescence analysis revealed that neurospheres expressed high proportions of Nestin-positive (97.09%), Sox2-positive (50.11%), and p75NTR-positive (77.87%) cells. Metabolomic profiling revealed a significant enhancement of the Warburg effect in the NSC-Med group. Western blot analysis further revealed elevated expression of PKM2, along with significant increases in both extracellular and intracellular lactate levels following NSC-Med treatment. NSC-Med treatment significantly enhanced proliferation, as demonstrated by a 2.3-fold increase in EdU incorporation (P < 0.05). Transcriptomic analysis revealed the activation of the calcium signaling pathway in the GDNF group. Western blotting revealed a significant increase in CaMKII phosphorylation, and treatment with the calcium chelator BAPTA-AM attenuated GDNF-induced NeuroD1 upregulation. NSC-Med promotes stem cell-associated features and gene expression in enteric glial cells. GDNF-a key component of NSC-Med-activates a neurogenic cascade via the calcium signaling pathway (CaMKII-NeuroD1 axis), which offers a potential targeted molecular strategy for HSCR therapy.
Mobile health applications for parents of children with Hirschsprung disease: a requirement analysis.
Hirschsprung disease (HD) is a congenital gastrointestinal disorder that occurs due to the absence of nerve cells in segments of the large intestine, resulting in impaired propulsive bowel movements. Postoperative complications and the need for continuous care place parents of affected children under significant educational challenges. Mobile health (mHealth) applications can serve as effective tools to enhance parental education and self-management. The aim of this study was to identify the requirements and functional needs of a mHealth application specifically designed for parents of children with HD. This research was conducted as a mixed-methods study in two phases. First, a targeted literature review was performed, and a list of informational needs and functional capabilities of the application was extracted. These items were then compiled into a Delphi questionnaire and distributed to 13 pediatric gastroenterologists and pediatric surgeons. Responses were analyzed based on the mean score of each item, and items with low mean scores were excluded. In the qualitative phase, semi-structured interviews were conducted with six parents of children with HD to collect their perspectives on educational needs and desired application features. Qualitative data were analyzed using the conventional content analysis method. In the Delphi phase, 67 items across four main categories-demographic data, disease-related clinical data, educational content, and application functional capabilities-were approved, while two items ("insurance coverage" and "guardian access to medical record information") were excluded. Analysis of qualitative findings led to the extraction of four themes, nine categories, and 20 subcategories. Parents identified their most important needs as comprehensive and understandable educational content, reminder and care-tracking tools, remote communication and consultation capabilities, and a simple, user-friendly design. Integrating the perspectives of specialists and parents resulted in the development of a comprehensive set of requirements for designing a mHealth application tailored to parents of children with HD. This framework can serve as a model for developing similar educational applications for other pediatric gastrointestinal diseases and provides a foundation for future supportive digital intervention design. • Parents of children with Hirschsprung disease often face ongoing challenges in understanding postoperative care, recognizing warning signs, and managing long-term complications. • Mobile health applications have been increasingly used to support education, self-management, and communication in chronic pediatric conditions. • This study identifi es the specifi c informational and functional requirements of a mobile health application tailored for parents of children with Hirschsprung disease through a mixed-methods needs assessment. • By integrating the perspectives of both specialists and parents, the study provides a practical framework to guide the development of a user-centered application in this field.
Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia. It is often associated with short stature, metaphyseal abnormalities, hair hypoplasia and immune dysfunction. This case describes a pregnant woman in her mid-30s with two previous children diagnosed with CHH with molecular confirmation of two pathogenic variants of the ribonuclease mitochondrial RNA processing gene. The couple is healthy and non-consanguineous. Routine ultrasound examination of the current pregnancy suggested this fetus was also likely to be affected. The couple opted not to perform invasive prenatal diagnosis. Umbilical cord blood was collected at birth for genetic testing, confirming the diagnosis. CHH has a significant impact on the quality of life of those affected. Genetic counselling may help parents understand the disease and its prognosis. Obstetric ultrasound plays an important role in the diagnosis by allowing early detection of suspected cases as well as assessing fetal growth.
Interrater reliability in pediatric high-resolution anorectal manometry recordings.
High-resolution anorectal manometry (HR-ARM) is a diagnostic test assessing anorectal neuromuscular function in children with constipation and/or fecal incontinence. Interrater reliability of HR-ARM in children has not been previously studied. The aim of this study was to assess the interrater reliability of pediatric HR-ARM studies. Ten pediatric gastroenterologists specialized in neurogastroenterology and motility analyzed ten deidentified pediatric HR-ARM studies using dedicated analysis software (Solar GI HRM v9.1, MMS, Enschede, the Netherlands). Anal canal resting pressure, squeeze pressure and duration, presence of the rectoanal inhibitory reflex (RAIR), bear down maneuver (normal/abnormal), and final interpretation of the study (normal/abnormal) were evaluated. Fleiss' Kappa (κ) and intraclass correlation coefficient (ICC) were used for categorical and continuous data, respectively. Interrater reliability was excellent for resting pressure (ICC 0.97, 95% confidence interval [CI 0.93-0.99), squeeze pressure (ICC 0.97, 95% CI 0.94-0.99), and squeeze duration (ICC 0.93, 95% CI 0.85-0.98). A fair interrater agreement for the RAIR (κ = 0.35) was seen, and a moderate interrater agreement was seen for interpretation of the bear down maneuver and the final interpretation of the study either being normal or abnormal (κ = 0.50 and κ = 0.43, respectively). This study demonstrated excellent interrater reliability in assessing HR-ARM anal canal resting pressure, squeeze pressure, and squeeze duration and suboptimal reliability in interpreting the detection of a RAIR and bear down maneuver. These findings highlight the need for standardization of HR-ARM protocols and interpretation criteria in children.
Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
Mowat-Wilson Syndrome (MWS) is an autosomal dominant genetic disorder caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 (ZEB2) gene. Congenital anomalies of the kidney and urinary tract (CAKUT), including hydroureter and hydronephrosis, have been reported in patients with MWS. However, the role of the ZEB2 gene in urinary tract development and the cellular and molecular mechanisms underlying the CAKUT phenotypes in MWS remain unknown. In this study, we examined ZEB2 expression in the developing mouse ureter and generated Zeb2 ureteral mesenchyme-specific conditional knockout mice (Zeb2 cKO) by crossing Zeb2 floxed mice with Tbx18Cre+ mice. The urinary tract of Zeb2 cKO mice and their wild-type littermates was analyzed for morphological and histological changes. Our results show that ZEB2 is expressed in TBX18+ ureteral mesenchymal cells during mouse ureter development. Deleting Zeb2 in these cells caused hydroureter and hydronephrosis, indicating obstructive uropathy. Cellular and molecular marker analysis revealed that the TAGLN+ACTA2+ ureteral smooth muscle cell (SMC) layer was absent in Zeb2 cKO mice. In contrast, the tunica adventitia cell layer was significantly expanded compared to controls. At the molecular level, Zeb2 cKO mice had significantly decreased TBX18 expression but increased SOX9 expression in the developing ureter compared to wild-type controls. Our findings demonstrate that ZEB2 is crucial for normal ureteral SMC differentiation during ureter development. Additionally, our study suggests that MWS patients may have abnormal ureteral SMC development, which contributes to the abnormalities of the urinary tract.
Publicações recentes
Electrode Placement and Continence Outcomes in Pediatric Hirschsprung's Disease: Rectal Versus Surface Stimulation After Trans-Anal Pull-Through Surgeries.
International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.
A 37-year-old asymptomatic African-American female with fundus spots.
Phenotypic Expansion and Molecular Implications in Recessive FUZ-Related Ciliopathy.
Longitudinal Changes in Senna-Based Laxative Dosing in Pediatric Constipation: A Single-Center Retrospective Study.
📚 EuropePMC1.397 artigos no totalmostrando 196
Hirschsprung disease and associated urological morbidities: institutional experience and systemic review.
World journal of urologyCase report: small bowel volvulus following laparoscopic-assisted Soave pull-through for adult Hirschsprung disease: a diagnostic dilemma.
International journal of surgery case reportsAirway Obstruction as the First Clue: Syndromic Neurocristopathy With Neuroblastoma, Hirschsprung Disease, and PHOX2B Mutation in a Neonate.
Pediatric blood & cancerDefinitive ileostomy in Total Colonic Aganglionosis: results and considerations from a single-center experience.
Journal of pediatric surgeryDual 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 & therapyNeurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study.
World journal of gastrointestinal surgeryCase Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Frontiers in geneticsDefinitive surgery for Hirschsprung disease between 3 and 12 months achieves best outcomes: A systematic review with meta-analysis.
Journal of pediatric surgeryThe role of gut microbiota in Hirschsprung's disease: from pathogenic mechanisms to microbiota-targeted therapies.
PeerJThe PODCAST-question: postoperative dilation versus calibration after surgical treatment of Hirschsprung's disease-what is necessary?
Pediatric surgery internationalSurgical Complications in Hirschsprung Disease and the Impact of Botulinum Toxin Injection on Hirschsprung-Associated Enterocolitis.
Journal of clinical medicineMobile health applications for parents of children with Hirschsprung disease: a requirement analysis.
European journal of pediatricsDNER as a novel protein contributes to HSCR pathogenesis: multi-omics combined Mendelian randomization analysis.
Pediatric researchSkip segment hirschsprung disease: Unicentric experience with four cases and systematic literature review.
Journal of pediatric surgeryFamilial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
BMJ case reportsIndirect Evidence for the Volume-Outcome Relationship in Corrective Surgery for Hirschsprung Disease: Insights from Adult Colorectal Surgery.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieToxic megacolon: A rare presentation and novel treatment.
JPGN reportsGender Equity in pediatric surgical care in Central and South Asia: A systematic review and meta-analysis.
Journal of pediatric surgeryThrombospondin-1-mediated macrophage efferocytosis dysfunction exacerbates intestinal pathology in Hirschsprung's disease.
International immunopharmacologyContrast enema in Hirschsprung disease: radiological signs and clinical symptoms as predictors in a logistic regression model.
Pediatric radiology[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryProximal ganglionic intestine in Hirschsprung disease is fibrotic and stiff.
JCI insightSod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling.
bioRxiv : the preprint server for biologyA call for personalized transition of care in congenital surgical anomalies: A population-based cohort study on healthcare utilization from birth to adulthood.
Journal of pediatric surgeryCase of neonate with total intestinal hirschsprung disease managed with a proximal jejunostomy.
Intestinal Failure (New York, N.Y.)Outcomes of robotic-assisted soave pull-through procedure for Hirschsprung disease: a systematic review and meta-analysis.
Journal of robotic surgeryPerioperative outcomes in primary neonatal pullthrough versus pullthrough in older children with Hirschsprung disease: a systematic review and meta-analysis.
Scientific reportsInterrater reliability in pediatric high-resolution anorectal manometry recordings.
Journal of pediatric gastroenterology and nutritionDiagnostic assessment of Hirschsprung disease using fluorescence confocal microscopy: A feasibility study.
Journal of pediatric surgeryPredictors of successful transitions in a bowel management program.
Journal of pediatric surgeryA case of Hirschsprung disease of total intestinal aganglionosis with intestinal dilatation and peristalsis on prenatal ultrasound.
Taiwanese journal of obstetrics & gynecologyNeonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
European journal of medical geneticsEarly functional outcomes of the Swenson ileoanal pull-through for total colonic Hirschsprung disease at a high-volume referral center.
Journal of pediatric surgeryETB receptor deficiency amplifies allergic airway inflammation and hyperresponsiveness.
ERJ open researchMultidisciplinary management of postoperative continence issues in rectosigmoid Hirschsprung disease: a unicentric experience on 86 patients.
Pediatric surgery internationalPaediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.
International journal of colorectal diseaseTranscription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
PLoS geneticsDeep learning-based automated contrast enema analysis to improve the assessment of Hirschsprung disease.
European radiologyArtificial intelligence in the diagnosis of Hirschsprung disease: A scoping review and rationale for a multicentric approach.
Journal of pediatric surgeryEndothelin-3 and T-type Ca2+ channels drive enteric neural crest cell calcium activity, contractility and migration.
Nature communicationsPerlecan, CollagenXVIII, and Agrin Expression in Normo-, Hypo-, and Aganglionic Segments in Hirschsprung's Disease.
Neurogastroenterology and motilityDyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.
Journal of pediatric endocrinology & metabolism : JPEMSafety and feasibility of one-stage neonatal approach for short-segment Hirschsprung's disease.
PloS oneXq28 Variants as Novel Male-Specific Susceptibility Factors for Hirschsprung Disease.
The Journal of surgical researchIs trisomy 21 a risk factor for postoperative complications after pediatric surgery for neonatal gastrointestinal disease? A retrospective study using a National Clinical Database in Japan.
Pediatric surgery internationalNutritional 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 pediatricsCartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.
MedicineLandscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.
CancersRetinol dehydrogenase 10-mediated retinoic acid signaling regulates the neural crest cell microenvironment during enteric nervous system formation.
Human molecular geneticsDoes surgical approach affect Hirschsprung-associated enterocolitis risk? A comparison between transanal Swenson-like and endorectal pull-throughs.
PloS oneUltrasound Evaluation of Perianal Diseases in Infants.
Journal of medical ultrasoundCecal growth factors promote enteric neurosphere formation and hindgut colonization in the avian model.
Frontiers in cell and developmental biologyRET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
GenesRefractory/Relapsed Hodgkin Lymphoma in Cartilage Hair Hypoplasia-Anauxetic Dysplasia Spectrum: Long-term HSCT-free Remission in 2 Pediatric Siblings.
Journal of pediatric hematology/oncologyClinical decision-making in neonatal gastrointestinal surgical emergencies: comparison between ChatGPT and human clinicians.
World journal of pediatric surgerySclerotherapy as first-line treatment of rectal prolapse in children, including those with anorectal malformations.
Pediatric surgery internationalComparative efficacy of Soave versus Swenson procedures for Hirschsprung disease: a systematic review and meta-analysis.
Pediatric surgery internationalIntestinal failure outcomes in children with small-Intestinal Hirschsprung disease: A matched study.
Journal of pediatric surgeryEvaluating single incision laparoscopy-assisted extracorporeal biopsy as an alternative to frozen sections in the management of Hirschsprung disease.
The Medical journal of MalaysiaGut Microbiome profile on hirschsprung diseases with hirschsprung associated enterocolitis and non-hirschsprung associated enterocolitis: A systematic review.
The Medical journal of MalaysiaThe effect of serum eosinophilia and lymphocytosis on functional outcomes of Hirschsprung disease patients after Duhamel procedure.
The Medical journal of MalaysiaAlterations in intestinal microbiota composition in children with Hhirschsprung disease: A comparative study with healthy controls.
The Medical journal of MalaysiaPreoperative nutritional support in children with Hirschsprung disease: a prospective multicenter open-label randomized controlled trial.
Nature communicationsOutcome of single-stage transanal Swenson pull-through without frozen section in short-segment Hirschsprung's disease.
JPMA. The Journal of the Pakistan Medical AssociationMorphological evidence suggestive of a hierarchical mode of glial cell diversification and intrinsic developmental plasticity within the murine enteric nervous system.
Frontiers in neuroscienceRedefining the prevalence of different clinical variants in MEN2A and their correlation with RET germline mutations: a single-center series and experience.
Endocrine-related cancerOutcomes of pull-through surgery among children with Hirschsprung's disease in Tanzania: a comparative study.
BMC surgerySurgical Techniques for the Treatment of Hirschsprung's Disease-A Historical Systematic Review and Current Status Quo.
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Pediatric surgery internationalTight Junction Defects in Aganglionic and Ganglionic Colon in Children With Hirschsprung Disease.
Laboratory investigation; a journal of technical methods and pathologyLongitudinal analysis of gut microbiota dysbiosis and bacterial signatures predictive of postoperative enterocolitis in children with Hirschsprung disease.
Clinical and experimental pediatricsAssociation Between Congenital Gastrointestinal Malformation Outcome and Largely Asymptomatic SARS-CoV-2 Infection in Pediatric Patients-A Systematic Review.
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The Journal of clinical investigationSchool toilet facilities perception of children with hirschsprung disease: a parents perspective.
Pediatric surgery internationalAdvances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.
Intractable & rare diseases researchUnlocking the Neurogenic Potential of Enteric Glial Cells for Hirschsprung Disease Therapy.
Cellular and molecular gastroenterology and hepatology[Histopathological diagnosis of intestinal motility disorders: Hirschsprung disease and differential diagnoses].
Pathologie (Heidelberg, Germany)Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.
Neurobiology of diseaseA double-colon dilemma: unusual presentation of complete tubular colonic duplication in a 7-month-old.
Journal of surgical case reportsAltered enteric neurodevelopment in the Ncx knockout mouse model of intestinal neuronal dysplasia.
Pediatric surgery internationalExtracellular vesicle-mediated transfer of MIR22HG inhibits the colonization of enteric neural crest cells in the colon by decreasing MPP3 expression.
Communications biologyDual Challenges: A Case Report of Hirschsprung's Disease and Anorectal Malformation in a Child.
Pediatric gastroenterology, hepatology & nutritionComparative Analysis of Surgical Outcomes Following Duhamel, Soave, and Transanal Endorectal Pull-through Techniques in Hirschsprung's Disease.
Medical archives (Sarajevo, Bosnia and Herzegovina)A Case of Peutz-Jeghers Syndrome Complicated With Hirschsprung Disease.
CureusCombinatorial multiomic analysis from a pedigree of Sox10Dom Hirschsprung mice implicates Dach1 as a modifier of Enteric Nervous System development.
bioRxiv : the preprint server for biologyThe relation between Down syndrome and co-occurring conditions in children and young adults: A population-based cohort in Denmark, 1977-2016.
Research in developmental disabilitiesDiagnostic significance of microcolon findings in neonatal contrast enema for patients with intestinal atresia.
Pediatric surgery internationalHirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
Clinical geneticsNeonatal Intestinal Perforations: When Should We Perform a Rectal Biopsy to Rule Out Hirschsprung's Disease?
Journal of laparoendoscopic & advanced surgical techniques. Part AHistorical aspects of anatomic landmarks during pull-through for hirschsprung disease: focusing on resection levels of the aganglionic rectum and rectal cuff issues.
Pediatric surgery internationalAltered Development of Gut Microbiota and Gastrointestinal Inflammation in Children with Post-Operative Hirschsprung's Disease.
International journal of molecular sciencesPreface: concepts and controversies in Hirschsprung disease.
World journal of pediatric surgeryTracing the enteric neural crest cell pathway from origin to colonization: insights into Hirschsprung's disease.
Molecular biology reportsIntegrated genomic analysis of EDNRB common and rare variants in Hirschsprung disease.
Genes & diseasesComparison of machine learning models in the interpretation of barium enemas in Hirschsprung's disease.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaTight junction dysfunction and cytoskeletal remodeling in Hirschsprung‑associated enterocolitis: A decade of mechanistic insights and therapeutic prospects (Review).
Molecular medicine reportsLong-term effects of Hirschsprung disease in adults: meta-analysis and patient-level regression study.
BJS openRefining the Sox10Dom/+ mouse model: A new breeding strategy with relevance to Hirschsprung disease genetics.
Animal models and experimental medicineA Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.
Journal of medical casesBowel function and quality of life in adolescents with Hirschsprung Disease.
Journal of pediatric surgeryBeyond Hirschsprung: outcomes of symptomatic infants after exclusion of Hirschsprung disease on rectal suction biopsy.
Pediatric surgery internationalIncidence of Hirschsprung Disease at the Central Pediatrics Teaching Hospital in Iraq: A Pathological Overview.
Endocrine, metabolic & immune disorders drug targetsJoint disruption of Ret and Ednrb transcription shifts cell fate trajectories in the enteric nervous system in Hirschsprung disease.
Proceedings of the National Academy of Sciences of the United States of AmericaInfrequent, but Not Intricate Radiological and Pathological Diagnosis of Chronic Intestinal Pseudo-Obstruction-Presented in a Two Pediatrics Cases of the Visceral Myopathy.
Diagnostics (Basel, Switzerland)Interdisciplinary transition of care for congenital gastrointestinal malformations: analysis of a standardized program.
International journal of adolescent medicine and healthThe PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.
Frontiers in physiologyHomozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.
Molecular syndromologyRisk factors for Hirschsprung's disease in infancy: A study from the NHANES database.
MedicineStrong agreement between self-administered and interview-obtained bowel function score in patients with Hirschsprung disease and anorectal malformation.
Pediatric surgery internationalThe Placode Lineage Contributes to the Enteric Nervous System: A Caution for Cell Transplantation Therapy for Hirschsprung Disease.
Cellular and molecular gastroenterology and hepatologyExploring potential sex differences in Hirschsprung disease: a national cohort study of diagnostic patterns and early postoperative outcome.
Pediatric surgery internationalDevelopment of a nomogram for predicting postoperative Hirschsprung-associated enterocolitis.
Frontiers in pediatricsDelayed Diagnosis of Hirschsprung Disease in an 18-Year-Old Male Patient With Fecaloma and Colonic Perforation: A Case Report.
CureusRobotic surgery for Hirschsprung disease: a systematic review and meta-analysis.
Journal of robotic surgeryBeyond aganglionosis: BCL-2 and Laminin signatures Elucidate Hirschsprung disease and Hirschsprung-Associated Enterocolitis pathogenesis.
Pediatric researchSingle-incision laparoscopic endorectal pull-through for Hirschsprung disease: a prospective institutional study and systematic review with meta-analysis.
Surgical endoscopyIntramuscular enteric glia persist in Hirschsprung disease and undergo neurogenesis in response to GDNF-NCAM1 signaling.
Scientific reportsInternal anal sphincter achalasia in chronic functional constipation in children: A myth rather than reality.
Journal of pediatric surgeryEMB is essential for enteric nervous system development mediated by PI3K signaling.
Genome medicineEarly postoperative complications following laparoscopic-assisted modified Soave procedure for Hirschsprung's disease: Incidence, Clavien-Dindo classification, and risk factor analysis.
PloS oneFGL2-induced metabolic dysregulation in enteric neural crest cells provides insight into Hirschsprung disease pathogenesis.
iScienceClinicopathologic features of allied disorders of Hirschsprung disease and status update.
World journal of gastrointestinal surgeryColonic Volvulus Associated with Hirschsprung's Disease in the Pediatric Age.
International journal of colorectal diseaseRetinoic Acid Inhibition Alters Intestinal Composition in Zebrafish: A Non-genetic Model to Study Hirschsprung Disease?
Neurogastroenterology and motilityCompound inheritance of rare and common RET variants in a Chinese family with three unfavorable pregnancies involving Hirschsprung's disease.
Taiwanese journal of obstetrics & gynecologyGenotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
PloS oneSex Differences in Postoperative Outcomes of Hirschsprung Disease: Propensity Score Matching Analysis.
Journal of pediatric surgeryAbnormal choline transporter immunohistochemical staining in older children with chronic constipation not associated with Hirschsprung disease.
American journal of clinical pathologyUnderstanding the Long-term Psychosocial and Health Care Needs of Adults With Congenital Colorectal and Pelvic Malformations.
Diseases of the colon and rectumWhole-Gut Spatial Genomic Analysis Reveals Molecular Regionalization of the Differentiating Zebrafish Enteric Nervous System.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologySystematic Review of Reported Outcomes for Antegrade Continence Enema in Patients With Anorectal Malformation and Hirschsprung Disease.
Journal of pediatric surgeryMicroenvironmental TFPI2 in Hirschsprung Disease: Mechanisms in ENCC Development.
Journal of pediatric surgeryLabel-free diagnostic procedure for hirschsprung's disease to detect intestinal mucosal characteristics of aganglionosis by Raman spectroscopy with optimized decision algorithms.
Lasers in medical scienceHigh suspicion unveils Hidden pathology of pediatric gastrointestinal surgical cases misidentified as medical: Three case reports.
World journal of clinical pediatricsDevelopments and prospects of robotic-assisted surgery in the treatment of pediatric Hirschsprung's disease: a comprehensive review.
Seminars in pediatric surgeryImpaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.
Scientific reportsA case series on the outcomes of laparoscopic pull-through surgery combined with Swenson-like technique and intraoperative frozen section biopsy for Hirschsprung's disease in children.
Journal of surgical case reportsSafety and utility of long-acting steroid injection for management of post-operative stricture in patients with anorectal malformation and Hirschsprung Disease.
Journal of pediatric surgeryFull-thickness rectal biopsies in diagnosis of Hirschsprung disease: 13 years of experience of a single center.
Northern clinics of IstanbulSignificance of interstitial cells of Cajal in Hirschsprung's disease and intestinal neuronal dysplasia - A comparative study.
Indian journal of pathology & microbiologySingle-Incision Laparoscopic Endorectal Pull-Through for Hirschsprung's Disease in Neonates: A Prospective Study on Medium-Term Outcomes.
Journal of pediatric surgeryMeconium-related obstruction: Contemporary experience in a multi-institutional consortium.
Journal of pediatric surgeryFailure to launch: Pediatric colorectal surgery center utilization by patients over 18 years of age.
Journal of pediatric surgeryFrom Gut Dysbiosis to Skin Inflammation: Exploring the Hirschsprung's Disease-Psoriasis Link.
Pediatric dermatologyTopical treatment of the anal sphincter in children with functional constipation and Hirschsprung disease.
Journal of pediatric gastroenterology and nutritionSurgical pathology of Hirschsprung disease (HSCR).
World journal of pediatric surgeryAI-powered 3D pathology protocol enhances enteric nervous system visualization and quantification for clinical diagnostics.
TheranosticsImpairment of stromal-epithelial regenerative cross-talk in Hirschsprung disease primes for the progression to enterocolitis.
Science translational medicineAlbumin: a novel biomarker for predicting intraoperative hypothermia in HSCR.
Annals of medicineGender differences in self-reported quality of life and bowel function among patients with anorectal malformation and Hirschsprung's disease compared to a healthy population: a multicenter cross-sectional study.
Pediatric surgery internationalZEB2: a multifunctional regulator of neural injury repair.
International immunopharmacologyPostoperative outcomes of robotic-assisted vs. laparoscopic pull-through surgery in pediatric Hirschsprung's disease: a systematic review and meta-analysis.
Pediatric surgery internationalSingle Cell Profiling in the Sox10Dom Hirschsprung Mouse Implicates Hox Genes in Enteric Neuron Trajectory Allocation.
Cellular and molecular gastroenterology and hepatologyIntraoperative quantitative analysis of intestinal perfusion by ICG fluorescence in Hirschsprung disease: a single-center retrospective cohort study.
Pediatric surgery internationalVolume-outcome relationship in corrective surgery for Hirschsprung's disease: a systematic literature review of direct evidence and an overview of indirect evidence.
Pediatric surgery internationalPerioperative outcomes of neonatal versus delayed surgery for Hirschsprung disease: a nationwide retrospective cohort study in Japan.
Pediatric surgery internationalColonic web in infants and toddlers: a cause of chronic bowel obstruction.
BMJ case reportsAssessment of Surgical Outcomes in Patients With Hirschsprung Disease: A 20-year Experience.
Journal of pediatric surgeryRET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma.
CureusRobot-Assisted Laparoscopic Endorectal Pull-Through Combined with Deloyers Turnover in Long-Segment Hirschsprung Disease: A Case Report.
European journal of pediatric surgery reportsSecretagogin Downregulation Impairs Nerve Cell Migration in Hirschsprung Disease via Inhibition of the LEF-1/NCAM1 Axis.
Molecular & cellular proteomics : MCPWaardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.
International journal of molecular sciencesThe burden of delayed diagnosis in Hirschsprung disease: insights from a Paediatric Colorectal Centre in South Africa.
BMC pediatricsImpaired Fertility and Sexual Function in Women With Hirschsprung Disease: Results From an International Multi-Centre Cross-Sectional Study.
BJOG : an international journal of obstetrics and gynaecologyFeatures of defecation dysfunction among patients with Hirschsprung disease in early childhood.
BMC gastroenterologyEvaluating the Empowerment Potential of an International Sexual Support Website for Patients with Anorectal Malformations and Hirschsprung Disease, their Parents and Healthcare Providers.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieOptimized chemogenetic ablation and regeneration of enteric nervous system neurons in zebrafish.
bioRxiv : the preprint server for biologyThe clinical utility and safety of rectal suction biopsy in children, a single center report.
Journal of pediatric gastroenterology and nutritionDeciphering the complexity of enteric niches in Hirschsprung disease: from metaphorical insights to therapeutic transformation.
Frontiers in pediatricsHirschsprung disease at a tertiary hospital: Patient profile, management and outcomes.
Health SA = SA GesondheidPost pull- through bowel function outcome and contributing factors in children; a cross-sectional study from low resource setting.
BMC surgeryThe association between short-term postoperative complications and bowel function after surgery for Hirschsprung disease.
BMC pediatricsRisk factors and nomogram model for short-term postoperative complications in patients with hirschsprung disease.
BMC medical informatics and decision makingArtificial Intelligence Enhances Diagnostic Accuracy of Contrast Enemas in Hirschsprung Disease Compared to Clinical Experts.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieSuccess of Antegrade Continence Enema (ACE) in Pediatric Patients with Impaired Fecal Control.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie[Treatment of colostomy evagination in a child with Hirschsprung's disease].
KhirurgiiaApplication of enhanced recovery after surgery in perioperative care of infants and children with Hirschsprung disease.
World journal of gastrointestinal surgeryBMI1 facilitates Wnt signaling by epigenetic silencing of Axin2 to promote cell proliferation and migration in Hirschsprung's disease.
Integrative biology : quantitative biosciences from nano to macroUnique challenges in managing pediatric colorectal diseases in under-resourced areas: context-aware adaptive responses from short-term surgical outreach visits.
La Pediatria medica e chirurgica : Medical and surgical pediatricsSodium Butyrate Promotes Enteric Glial Cells Neurogenesis by Inhibiting Kdm2a and Inducing Klf4 Expression.
Journal of pediatric surgeryIntegrating psychological support in the care of children and adolescents with anorectal malformation or Hirschsprung disease: a ten-year experience.
Pediatric surgery internationalSystematic Review on Questionnaires Reporting Bowel Function and Health-Related Quality of Life in Patients With Hirschsprung Disease.
Journal of pediatric surgeryBridging Knowledge and Practice: Insights Into Hirschsprung's Disease and Home Management.
Neonatal network : NNSpatial Transcriptomics of Hirschsprung Disease Resection Margins Marks Differential Gene Expression in Myenteric Plexus.
GastroenterologyEvaluating the quality and reliability of youtube videos on Hirschsprung's disease: a comprehensive analysis for patients, parents and health professionals.
Pediatric surgery internationalPsychometric comparison of CHU9D and PedsQL 4.0 proxy version administered to parents of children with congenital colorectal conditions in Australia.
The European journal of health economics : HEPAC : health economics in prevention and careDoes the absence of hypertrophic nerves on rectal biopsy predict long-segment or total colonic aganglionosis?
Pediatric surgery internationalHMGB1 Derived from the Pyroptotic Microenvironment Promotes Macrophage Extracellular Traps in Hirschsprung-Associated Enterocolitis.
Advanced biologyPrematurity Associated With Increased Complications and Reoperation After Pull-Through in Hirschsprung Disease.
The Journal of surgical researchComments on the "Risk factors of bowel perforation in neonates with Hirschsprung disease".
Pediatric surgery internationalA note on the history of Hirschsprung's disease, and an over 120 years apology.
Pediatric surgery internationalHistory of surgery for Hirschsprung disease: a view from Melbourne.
World journal of pediatric surgeryBananagram: an alternative to distal loopogram prior to colostomy closure for Hirschsprung disease.
World journal of pediatric surgeryAcetylcholine from tuft cells promotes M2 macrophages polarization in Hirschsprung-associated enterocolitis.
Frontiers in immunologyAlteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.
Pigment cell & melanoma researchRapid, objective intraoperative mapping of Hirschsprung disease with a portable electrochemical acetylcholine sensor.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- 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.
- Mobile health applications for parents of children with Hirschsprung disease: a requirement analysis.
- Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
- Interrater reliability in pediatric high-resolution anorectal manometry recordings.
- Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
- Electrode Placement and Continence Outcomes in Pediatric Hirschsprung's Disease: Rectal Versus Surface Stimulation After Trans-Anal Pull-Through Surgeries.
- International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.
- A 37-year-old asymptomatic African-American female with fundus spots.
- Phenotypic Expansion and Molecular Implications in Recessive FUZ-Related Ciliopathy.
- Longitudinal Changes in Senna-Based Laxative Dosing in Pediatric Constipation: A Single-Center Retrospective Study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:388(Orphanet)
- MONDO:0018309(MONDO)
- GARD:6660(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1343645(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
