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Atresia do intestino delgado
ORPHA:1201CID-10 · Q41.0CID-11 · LB15.1OMIM 243600DOENÇA RARA

A atresia do intestino delgado é uma forma especial de atresia intestinal com ausência de mesentério, provavelmente devido a um acidente vascular intestinal intrauterino. Os recém-nascidos são geralmente prematuros com baixo peso ao nascer, que enfrentam dificuldades de alimentação (incluindo vômitos nas mamadas iniciais, que podem piorar posteriormente e o abdômen torna-se progressivamente distendido), bem como deficiência de crescimento. As crianças afetadas apresentam alças intestinais rompidas assumindo uma configuração espiral semelhante a uma “casca de maçã” e podem ter menos da metade do comprimento normal do intestino delgado e um intestino fisiologicamente curto. A atresia do intestino delgado é caracterizada por atresia jejunal próxima ao ligamento de Treitz, intestino encurtado e grande lacuna mesentérica. O intestino distal à atresia é irrigado precariamente. A atresia do intestino delgado pode ser uma manifestação de fibrose cística. A causa mais importante de mortalidade é a síndrome do intestino curto, encontrada em 65% dos casos.

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Introdução

O que você precisa saber de cara

📋

A atresia do intestino delgado é uma forma especial de atresia intestinal com ausência de mesentério, provavelmente devido a um acidente vascular intestinal intrauterino. Os recém-nascidos são geralmente prematuros com baixo peso ao nascer, que enfrentam dificuldades de alimentação (incluindo vômitos nas mamadas iniciais, que podem piorar posteriormente e o abdômen torna-se progressivamente distendido), bem como deficiência de crescimento. As crianças afetadas apresentam alças intestinais rompidas assumindo uma configuração espiral semelhante a uma “casca de maçã” e podem ter menos da metade do comprimento normal do intestino delgado e um intestino fisiologicamente curto. A atresia do intestino delgado é caracterizada por atresia jejunal próxima ao ligamento de Treitz, intestino encurtado e grande lacuna mesentérica. O intestino distal à atresia é irrigado precariamente. A atresia do intestino delgado pode ser uma manifestação de fibrose cística. A causa mais importante de mortalidade é a síndrome do intestino curto, encontrada em 65% dos casos.

Publicações científicas
149 artigos
Último publicado: 2025 Nov

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
🏥
SUS: Cobertura parcialScore: 40%
Triagem neonatal (Fase 5)Centros em: PA, PE, BA, CE, PB +10CID-10: Q41.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
5 sintomas
📏
Crescimento
3 sintomas
🦴
Ossos e articulações
1 sintomas
❤️
Coração
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

90%prev.
Hipoplasia intestinal
Muito frequente (99-80%)
55%prev.
Retardo do crescimento intrauterino
Frequente (79-30%)
55%prev.
Déficit de crescimento
Frequente (79-30%)
55%prev.
Má rotação intestinal
Frequente (79-30%)
55%prev.
Baixa estatura
Frequente (79-30%)
55%prev.
Dificuldades alimentares
Frequente (79-30%)
12sintomas
Muito frequente (1)
Frequente (9)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Hipoplasia intestinalIntestinal hypoplasia
Muito frequente (99-80%)90%
Retardo do crescimento intrauterinoIntrauterine growth retardation
Frequente (79-30%)55%
Déficit de crescimentoFailure to thrive
Frequente (79-30%)55%
Má rotação intestinalIntestinal malrotation
Frequente (79-30%)55%
Baixa estaturaShort stature
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico149PubMed
Últimos 10 anos52publicações
Pico202210 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Os sinais que médicos procuram e os exames que confirmam

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Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
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·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Atresia do intestino delgado

Centros de Referência SUS

24 centros habilitados pelo SUS para Atresia do intestino delgado

Centros para Atresia do intestino delgado

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
53 papers (10 anos)
#1

Design and validation of a low-cost modular simulator for training in neonatal laparotomy and jejunoileal atresia repair.

Journal of pediatric surgery2026 Jan

Surgical treatment of neonatal jejunoileal atresia requires highly specialized skills, but its rarity makes training opportunities sparse. We aimed to address this by developing and evaluating a low-cost, high-fidelity, modular simulator for comprehensive training in neonatal laparotomy and small bowel atresia repair. Our design consisted of three primary components: bowel, abdominal wall, and abdominal cavity. 3D-printed molds were used to cast silicone models of type II and type IIIa atretic bowel with its mesentery. The abdominal wall was created by layering molded silicone and fabric. A small 3D-printed enclosure with an opening and bony landmarks was designed to simulate the neonatal abdomen. The material cost per model was ∼$16.88 USD, with each subsequent use costing ∼$5.09 USD. Eight expert surgeons and eight surgical trainees performed simulated atresia repairs and stoma creations. Participants rated face and content validity on a 5-point Likert scale. Videos of the simulated procedures were evaluated by an attending pediatric surgeon to assess construct validity by comparing performance between experts and trainees. The highest mean realism ratings were for surface anatomy (4.06) and anatomical structure (4.06). Content validity responses were positive (mean ratings >4), indicating that participants found the model thorough and valuable. Trainees made significantly more mistakes (p = 0.001) and completed fewer tasks (p = 0.01) than experts. Our simulator demonstrated strong face, content, and construct validity. It offers an accessible, cost-effective training tool, with promise for implementation in both high- and low-resource settings with limited surgical training opportunities.

#2

Clinical Study of Intestinal Pacemaker Cells in Neonates With Small Bowel Atresia.

Cureus2025 Nov

Small bowel atresia is a leading cause of neonatal intestinal obstruction and is frequently associated with postoperative gastrointestinal dysmotility. While factors like enteric nervous system alterations have been studied, the role of interstitial cells of Cajal (ICCs), the gut's pacemaker cells, remains under-investigated. This study aimed to assess the density and distribution of ICCs in the atretic, proximal, and distal bowel segments in neonates with small bowel atresia and correlate their presence with postoperative outcomes. A prospective study was conducted over two years at Institute of Child Health Niloufer Hospital, Hyderabad, including 44 neonates diagnosed with various types of small bowel atresia. Resected bowel segments were analyzed histologically and immunohistochemically using anti-CD117 (c-Kit) antibodies to identify ICCs. Clinical parameters such as age, type and location of atresia, postoperative bowel function, and survival were documented and statistically correlated with ICC distribution. Among the 44 neonates (52.27% female), jejunal and ileal atresias were most common. The majority presented within the first five days of life. CD117 staining revealed sparse or absent ICCs in the atretic and proximal segments in neonates with delayed bowel function and poorer outcomes. In contrast, higher ICC expression was significantly associated with earlier stool passage and improved survival (p < 0.05). A reduction in ICCs is a notable pathological feature of small bowel atresia. Their density in resected bowel segments significantly influences postoperative bowel motility and survival. ICC density assessment may serve as a prognostic indicator and guide surgical planning in affected neonates.

#3

Gastrointestinal obstruction in neonates and infants - a four-year profile in Chris Hani Baragwanath Academic Hospital.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie2025 Sep

Different disease entities that cause gastrointestinal (GI) obstruction have been studied in isolation; however, no description of GI obstruction in neonates and infants in South Africa could be identified. This study aims to describe the profile of GI obstruction in neonates and infants at Chris Hani Baragwanath Academic Hospital (CHBAH) from January 2016 to December 2019. This was a retrospective record review conducted on all patients < 1 year of age with GI obstruction admitted to CHBAH. Data on age at presentation, sex, presenting symptoms, aetiology, diagnostic imaging, operative and non-operative management, complications, and 30-day mortality were collected. A total of 299 patients were enrolled in this study. They were predominantly male (n = 175, 58.53%) and were neonates at presentation (n = 177, 59.20%). Congenital malformations (n = 203, 67.89%) were more common than acquired conditions (n = 96, 32.11%). Anorectal malformation (ARM) and small bowel atresia were the most common congenital condition (n = 61, 20.40%; n = 34, 11.37% respectively). Intussusception was the most common acquired condition (n = 78, 26.08%). The morbidity rate was 95 (31.77%) with nosocomial sepsis and surgical site sepsis accounting for 49 (51.58%) of the morbidities. Mortality rate was 16 (5.35%) and 10 (62,5%) of the mortalities had associated nosocomial sepsis. Congenital malformations of the GI tract are more common than acquired pathologies in neonates and infants in CHBAH. Sepsis causes significant morbidity in the postoperative period.

#4

Prenatal magnetic resonance imaging of umbilical cord ulcer in a fetus with congenital small bowel atresia: A case report.

Radiology case reports2025 Feb

A 34-year-old woman (gravida 2, para 0) with suspected fetal small-bowel atresia on ultrasound underwent magnetic resonance imaging (MRI) at 33 weeks 3 days of gestation. In addition to small bowel atresia, a teardrop-shaped hematoma was observed adjacent to the umbilical cord associated with an umbilical cord ulcer (UCU). The fetus was delivered by induced labor on diagnosis of intrauterine fetal death. UCUs were macroscopically observed on the surface of the umbilical cord. Ultrasonography is helpful in the diagnosis of UCU. Moreover, the MRI findings on UCUs adjacent to the umbilical cord in the case of congenital small bowel atresia should be observed carefully, especially after 30 weeks of gestation. MRI findings may lead to the detection of UCU and improve fetal outcome. Therefore, we should be aware of its findings.

#5

Decisions in Diversion: Enterostomy vs. Primary Anastomosis for Colonic Atresia.

Journal of pediatric surgery2025 Jan

Colonic atresia (CA) is associated with Hirschsprung disease (HD) in up to 10% of cases. Therefore, some surgeons elect to complete proximal diversion at the initial operation. We sought to better define the incidence of concurrent HD and evaluate practice patterns regarding diversion for CA. The Pediatric Health Information System (PHIS) database was used to identify patients with CA from 2013 to 2022. Patients with small bowel atresia, anorectal malformation, gastroschisis, or first operation after 14 days of age were excluded. Index and subsequent operations were defined. Complications, time to enterostomy closure, and unplanned operations were evaluated. HD was diagnosed in 8 (9.5%) patients and 7 of these were initially diverted. Diverted and anastomosed patients were demographically similar. In the 58 (69%) patients initially diverted, 19 (33%) had an ileostomy. Continuity was restored with an ileo-colic anastomosis in 63% of diverted and 27% of primarily anastomosed patients. Of those initially managed with a colostomy, 53% ultimately had a colo-colonic anastomosis. Patients with primary anastomoses had fewer operations and received more days of parenteral nutrition. Other outcomes did not vary. In a large population of infants with CA, 9.5% had concurrent HD. Almost 70% of CA patients underwent initial diversion and only one with HD had a primary anastomosis. Patients managed with a primary anastomosis were substantially more likely to retain the proximal colonic segment, but had a similar incidence of complications. When intraoperative colonic biopsies are obtained, primary anastomosis is a safe and effective strategy for CA.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC47 artigos no totalmostrando 52

2025

Clinical Study of Intestinal Pacemaker Cells in Neonates With Small Bowel Atresia.

Cureus
2025

Gastrointestinal obstruction in neonates and infants - a four-year profile in Chris Hani Baragwanath Academic Hospital.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie
2026

Design and validation of a low-cost modular simulator for training in neonatal laparotomy and jejunoileal atresia repair.

Journal of pediatric surgery
2025

Prenatal magnetic resonance imaging of umbilical cord ulcer in a fetus with congenital small bowel atresia: A case report.

Radiology case reports
2025

Decisions in Diversion: Enterostomy vs. Primary Anastomosis for Colonic Atresia.

Journal of pediatric surgery
2025

Retrospective review of growth in pediatric intestinal failure after weaning from parenteral nutrition.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition
2024

Biliary Atresia Associated With Jejunal Atresia: A Case Report.

Cureus
2024

Type 3B jejunoileal atresia management at a tertiary hospital in northern Tanzania: A report of three cases.

Clinical case reports
2024

Navigating Inconclusive Upper-Gastrointestinal Series in Infantile Bilious Vomiting: A Case Series on Intestinal Malrotation.

The American journal of case reports
2023

Prenatal Ultrasound Diagnosis and Clinical Analysis of Fetal Small Bowel Obstruction.

Current medical imaging
2023

Location of Treatment Among Infants Requiring Complex Surgical Care.

The Journal of surgical research
2023

A nordic multicenter study on contemporary outcomes of pediatric short bowel syndrome in 208 patients.

Clinical nutrition (Edinburgh, Scotland)
2023

The profile and outcome of small bowel atresia at Universitas Academic Hospital.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie
2023

Antimesenteric sleeve tapering enteroplasty with end-to-end anastomosis versus primary end-to-side anastomosis for the management of jejunal/ileal atresia.

Asian journal of surgery
2022

Congenital sodium diarrhoea caused by rare de novo activating guanylate cyclase mutation.

BMJ case reports
2022

Diagnostic value of the microcolon using ultrasonography in small bowel atresia.

BMC pediatrics
2022

Mid-trimester dilated fetal bowel leading to diagnosis of interstitial duplication 46,XX,dup(8)(q21.13q21.2) associated with extensive neonatal jejuno-ileal atresia.

Radiology case reports
2022

Incidence of late severe intestinal complications after bowel atresia/stenosis.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Biliary atresia associated with small-intestine atresia: A condition of high morbidity and mortality.

Asian journal of surgery
2022

Bowel Resection Through a Single Umbilical Incision: A Case Series.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2022

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.

American journal of medical genetics. Part A
2022

Meconium peritonitis: A 22-year review in a tertiary referral center.

Journal of pediatric surgery
2021

New sonographic feature (C-sign) to improve the prenatal accuracy of jejunal atresia.

The journal of obstetrics and gynaecology research
2021

Effect of Strict Lockdown on Pediatric Surgical Services and Residency Programme during COVID-19 Pandemic.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2022

Treatment of jejunoileal atresia by primary anastomosis or enterostomy: Double the operations, double the risk of complications.

Journal of pediatric surgery
2021

Laparoscopic Management of Congenital Intestinal Obstruction: Duodenal Atresia and Small Bowel Atresia.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2021

Mucous Fistula Refeeding Promotes Earlier Enteral Autonomy in Infants With Small Bowel Resection.

Journal of pediatric gastroenterology and nutrition
2021

Multiple Small Bowel Atresia: Resection or Conservation?

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2020

Congenital intestinal atresia associated with a mesenteric cystic lymphangioma in a low birth weight neonate: A case report.

International journal of surgery case reports
2020

A rare case report of infant ileal atresia with double appendix.

International journal of surgery case reports
2020

Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption.

Annals of pediatric endocrinology &amp; metabolism
2022

Fetal Meconium Peritonitis - Prenatal Findings and Postnatal Outcome: A Case Series, Systematic Review, and Meta-Analysis.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)
2020

Novel insights into the histology of jejunoileal atresia and its therapeutic implications.

Journal of pediatric surgery
2020

Prenatal diagnosis of midgut volvulus with jejunal atresia by ultrasonography.

The journal of obstetrics and gynaecology research
2020

Supplementation of Mother's Own Milk with Donor Milk in Infants with Gastroschisis or Intestinal Atresia: A Retrospective Study.

Nutrients
2019

Preliminary Investigation of the Diagnosis of Neonatal Congenital Small Bowel Atresia by Ultrasound.

BioMed research international
2019

Abnormalities of the intestinal pacemaker cells, enteric neurons, and smooth muscle in intestinal atresia.

Journal of laboratory physicians
2019

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

American journal of medical genetics. Part A
2019

Isolated Ascites in a Monochorionic Twin after Fetoscopic Laser Ablation Is Not Necessarily Secondary to Recurrence or Anaemia: Bowel Complications in Twin-to-Twin Transfusion Syndrome after Fetoscopic Laser Ablation.

Fetal diagnosis and therapy
2018

The extent of intestinal failure-associated liver disease in patients referred for intestinal rehabilitation is associated with increased mortality: an analysis of the Pediatric Intestinal Failure Consortium database.

Journal of pediatric surgery
2018

Outcome of neonates with gastroschisis at different gestational ages using a national database.

Journal of pediatric surgery
2017

The Development of Total Parenteral Nutrition.

The American surgeon
2016

Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report.

Journal of neonatal surgery
2016

Colonic Atresia: Association with Other Anomalies.

Journal of neonatal surgery
2016

A Minor Innovation in Constructing a Small Bowel Stoma in Neonates with Small Bowel Atresia to Reduce the Morbidity.

Journal of neonatal surgery
2016

A Rare Cause of Chronic Life Threatening Bleeding in a Girl: The Ulcerated Blind Loops.

APSP journal of case reports
2016

Accuracy of radiographic estimation of small bowel dimensions in pediatric patients with short bowel syndrome.

Journal of pediatric surgery
2016

Prenatal diagnosis of gastric and small bowel atresia: a case series and review of the literature.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2015

Outcomes in infants with prenatally diagnosed gastroschisis and planned preterm delivery.

Pediatric surgery international
2015

The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn.

Case reports in pediatrics
2015

The Surgical Correction of Congenital Deformities: The Treatment of Diaphragmatic Hernia, Esophageal Atresia and Small Bowel Atresia.

Deutsches Arzteblatt international
2015

Diagnostic Accuracy of Prenatal Ultrasound in Identifying Jejunal and Ileal Atresia.

Fetal diagnosis and therapy

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Atresia do intestino delgado

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Perguntas, dicas e experiências compartilhadas aqui na página

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Design and validation of a low-cost modular simulator for training in neonatal laparotomy and jejunoileal atresia repair.
    Journal of pediatric surgery· 2026· PMID 40812412mais citado
  2. Clinical Study of Intestinal Pacemaker Cells in Neonates With Small Bowel Atresia.
    Cureus· 2025· PMID 41446476mais citado
  3. Gastrointestinal obstruction in neonates and infants - a four-year profile in Chris Hani Baragwanath Academic Hospital.
    South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie· 2025· PMID 41055027mais citado
  4. Prenatal magnetic resonance imaging of umbilical cord ulcer in a fetus with congenital small bowel atresia: A case report.
    Radiology case reports· 2025· PMID 39654579mais citado
  5. Decisions in Diversion: Enterostomy vs. Primary Anastomosis for Colonic Atresia.
    Journal of pediatric surgery· 2025· PMID 39332974mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1201(Orphanet)
  2. OMIM OMIM:243600(OMIM)
  3. MONDO:0009476(MONDO)
  4. GARD:140(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q3629030(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

Atresia do intestino delgado
Compêndio · Raras BR

Atresia do intestino delgado

ORPHA:1201 · MONDO:0009476
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
Unknown
Herança
Autosomal recessive, Not applicable, Unknown
CID-10
Q41.0 · Ausência, atresia e estenose congênita do duodeno
CID-11
Início
Antenatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0021828
EuropePMC
Wikidata
Papers 10a
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