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Duplicação retal isolada
ORPHA:171220CID-10 · Q43.4CID-11 · LB17.YDOENÇA RARA

A duplicação retal é uma malformação anorretal congênita rara caracterizada por uma massa cística semelhante a um ovo, preenchida por muco, composta por revestimento de mucosa intestinal e tecido muscular liso. Comumente, apresenta-se na infância com sintomas de infecções recorrentes do trato urinário, gastroenterite, obstrução, sepse perianal e sangramento retal. A drenagem de muco ou pus pelo ânus também é um sinal de apresentação típico. A maioria é encontrada no espaço retro-retal, onde se comunica com o reto ou permanece contígua a ele.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 27/09/2026
Informacoes curadas por IA — podem conter imprecisoes

Visão geral

A duplicação retal isolada é uma malformação anorretal congênita rara caracterizada por uma massa cística semelhante a um ovo, preenchida por muco, composta por revestimento de mucosa intestinal e tecido muscular liso. A maioria dessas estruturas é encontrada no espaço retro-retal, onde se comunica com o reto ou permanece contígua a ele.[1]

Sinais e sintomas

O quadro comumente se apresenta na infância com manifestações de infecções recorrentes do trato urinário, gastroenterite, obstrução, sepse perianal e sangramento retal. A drenagem de muco ou pus pelo ânus também é descrita como um sinal de apresentação típico.[1]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

A duplicação retal isolada é uma malformação congênita rara em que se forma uma espécie de bolsa ou cisto preenchido por muco próximo ao reto. Geralmente identificada na infância, a condição pode causar infecções urinárias de repetição, sangramento retal, obstrução e saída de muco ou pus pelo ânus. Não há uma lista de remédios específicos ou protocolo próprio do Ministério da Saúde, mas o SUS oferece exames laboratoriais e serviços de reabilitação para o cuidado do paciente.

Informacoes curadas por IA — podem conter imprecisoes
[1] Orphanet [17] Ministério da Saúde — lista oficial de…
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Informacoes curadas por IA — podem conter imprecisoes

A duplicação retal é uma malformação anorretal congênita rara caracterizada por uma massa cística semelhante a um ovo, preenchida por muco, composta por revestimento de mucosa intestinal e tecido muscular liso. Comumente, apresenta-se na infância com sintomas de infecções recorrentes do trato urinário, gastroenterite, obstrução, sepse perianal e sangramento retal. A drenagem de muco ou pus pelo ânus também é um sinal de apresentação típico. A maioria é encontrada no espaço retro-retal, onde se comunica com o reto ou permanece contígua a ele.

Publicações científicas
132 artigos
Último publicado: 2026 Mar 7
🏥
SUS: Cobertura mínimaScore: 15%
5 procedimentos SIGTAPCID-10: Q43.4
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (5)
•
Cariótipo — bandas G, Q ou R
•
Pesquisa de microdeleções/microduplicações por FISH
•
Sequenciamento completo do exoma (WES)
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Dosagem de alfa-fetoproteína
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Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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Linha do tempo da pesquisa

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Anos de pesquisa11
Total histórico132PubMed
Últimos 10 anos37publicações
Pico20176 papers
Linha do tempo
20202015Hoje · 2026📈 2017Ano de pico
Publicações por ano (últimos 10 anos)

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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

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Vaginal Duplication Cyst - A Rare Isolated Anomaly Masquerading as a Colonic Duplication Cyst.

Journal of Indian Association of Pediatric Surgeons2025

Vaginal duplication cysts are rare congenital anomalies, especially in pediatric patients, often mimicking other pelvic cystic lesions. We report a 2-month-old female with a lower abdominal lump, urinary retention, and defecation issues. Imaging suggested a rectal duplication cyst, but laparoscopy revealed a vaginal duplication cyst adherent to the posterior vaginal wall. Surgical excision confirmed the diagnosis, and the child had complete symptom resolution. This case emphasizes the rarity of vaginal duplication cysts in infancy and the importance of surgical management for definitive diagnosis and treatment.

#2

Plasmid mediated colistin resistance in ESBL producing Enterobacterales based on both phenotypic and molecular analysis in companion and farm animals from Algeria.

Comparative immunology, microbiology and infectious diseases2025 Jun

The third-generation cephalosporin (3GC)-resistant Enterobacterales strains have been detected worldwide in humans and animals. Hence, in this study, we evaluated the prevalence and genetic characteristics of 3GC-resistant Enterobacterales in animals and their environment from Algeria, a country that combines traditional farming techniques with current efforts of veterinary development. Rectal samples were collected from 126 healthy livestock, poultry, pets and environment surfaces between 2022 and 2023. Antimicrobial susceptibility testing was performed according to Kirby-Bauer method and genes associated with resistance in 3GC-resistant isolates were identified using polymerase chain reaction (PCR) and DNA sequencing. Biofilm formation was assessed using the red Congo agar and tube methods with molecular study of biofilm genes. We obtained 49 non-duplicated 3GC-resistant Enterobacterales. Different species was isolated and the predominant ones were Escherichia coli 32,65 % (16/49) and Entrobacter cloacae 26,53 % (13/49). ESBL phenotype was detected in 46 strains. ESBL genes were blaTEM, blaOXA, blaCTX-Mg2, blaSHV and blaCTX-Mg1. The combination of blaTEM and blaOXA was present in 25 isolates, blaOXA in 15 isolates, both blaTEM and the combination of blaTEM+blaOXA+blaCTX-Mg1 in 2 isolates, blaTEM+blaOXA+blaCTX-Mg2 and blaOXA+blaSHV+ blaCTX-Mg1 were detected in one isolate. Two colistin resistant strains harbored mcr-1 gene and co-expressing blaTEM+blaOXA ESBL were isolated. Biofilm production was 18,37 % according to Red Congo agar method and 20,41 % in tube method. Biofilm genes csgA and bssb were detected in 20 isolates. Our study findings indicated that blaTEM+blaOXA is predominant in the 3GC resistant strains with the presence of mcr-1.

#3

Implementation of the WHO Tricycle protocol for surveillance of extended-spectrum β-lactamase producing Escherichia coli in humans, chickens, and the environment in Madagascar: a prospective genomic epidemiology study.

The Lancet. Microbe2024 Aug

Antimicrobial resistance (AMR) is a major public health threat, affecting not only people but also animals and the environment. The One Health dimension of AMR is well known; however, data are lacking on the circulation of resistance-conferring genes, particularly in low-income countries. In 2017, WHO proposed a protocol called Tricycle, focusing on extended-spectrum β-lactamase (ESBL)-Escherichia coli surveillance in the three sectors (humans, animals, and the environment). We implemented Tricycle in Madagascar to assess ESBL-E coli prevalence and describe intrasector and intersector circulation of ESBL-E coli and plasmids. In this prospective study, we collected blood culture data from hospitalised patients with a suspected bloodstream infection processed from May 1, 2018, to April 30, 2019, and rectal swabs from healthy pregnant women from July 30, 2018, to April 27, 2019, both from three hospitals in Antananarivo, Madagascar; and caeca from farm chickens and surface waters from the Ikopa river, wastewater, and slaughterhouse effluents in the Antananarivo area, Madagascar, from April 9, 2018, to April 30, 2019. All samples were tested for ESBL-E coli. The genomes of all isolates were sequenced using a short-read method on NextSeq 500 and NovaSeq 6000 platforms (Illumina, San Diego, CA, USA) and those carrying plasmid replicons using an additional long-read method on a MinION platform (Oxford Nanopore Technologies, Oxford, UK). We characterised genomes of isolated strains (sequence type, resistance and virulence gene content, and plasmid replicons). We then compared isolates using the variant calling method (single-nucleotide polymorphism). Data from 1056 blood cultures were collected and 289 pregnant women, 246 chickens, and 28 surface waters were sampled. Of the blood cultures, 18 contained E coli, of which seven (39%) were ESBL. ESBL-E coli was present in samples from 86 (30%) of 289 pregnant women, 140 (57%) of 246 chickens, and 28 (100%) of 28 surface water samples. The wet season (November to April) was associated with higher rates of carriage in humans (odds ratio 3·08 [1·81-5·27]) and chickens (2·79 [1·65-4·81]). Sequencing of 277 non-duplicated isolates (82 from pregnant women, 118 from chickens, and 77 from environmental samples) showed high genetic diversity (90 sequence types identified) with sector-specific genomic features. Single nucleotide polymorphism (SNP) analysis revealed that 169 (61%) of 277 isolates grouped into 44 clusters (two or more isolates) of closely related isolates (<40 SNPs), of which 24 clusters contained isolates from two sectors and five contained isolates from all three sectors. ESBL genes were all blaCTX-M variants (215 [78%] of 277 being blaCTX-M-15) and were located on a plasmid in 113 (41%) of 277 isolates. These ESBL-carrying plasmids were mainly IncF (63 [55%] of 114; one strain carried two plasmids) and IncY (42 [37%] of 114). The F31/36:A4:B1 (n=13) and F-:A-:B53 (n=8) pMLST subtypes, and the IncY plasmids, which were all highly conserved, were observed in isolates of differing genetic backgrounds from all sectors and were transferable in vitro by conjugation. Despite sector-specific population structures, both ESBL-E coli strains and plasmids are circulating among humans, chickens, and the environment in Antananarivo, Madagascar. The Tricycle protocol can be implemented in a low-income country and represents a powerful tool for investigating dissemination of AMR from a One Health perspective. Fondation Mérieux and INSERM, Université Paris Cité.

#4

Prevalence and Molecular Epidemiology of Intestinal Colonization by Multidrug-Resistant Bacteria among Hematopoietic Stem-Cell Transplantation Recipients: A Bulgarian Single-Center Study.

Antibiotics (Basel, Switzerland)2024 Sep 26

Background/Objectives: Intestinal colonization by multidrug-resistant (MDR) bacteria is considered one of the main risk factors for invasive infections in the hematopoietic stem-cell transplant (HSCT) setting, associated with hard-to-eradicate microorganisms. The aim of this study was to assess the rate of intestinal colonization by MDR bacteria and their microbial spectrum in a group of post-HSCT patients to study the genetic determinants of beta-lactam and glycopeptide resistance in the recovered isolates, as well as to determine the epidemiological relation between them. Methods: The intestinal colonization status of 74 patients admitted to the transplantation center of University Hospital "St. Marina"-Varna in the period January 2019 to December 2021 was investigated. Stool samples/rectal swabs were screened for third-generation cephalosporin and/or carbapenem-resistant Gram-negative bacteria, methicillin-resistant Staphylococcus aureus (MRSA), vancomycin-resistant enterococci (VRE), and Stenotrophomonas maltophilia. Identification and antimicrobial susceptibility testing were performed by Phoenix (BD, Sparks, MD, USA) and MALDI Biotyper sirius (Bruker, Bremen, Germany). Molecular genetic methods (PCR, DNA sequencing) were used to study the mechanisms of beta-lactam and glycopeptide resistance in the collected isolates, as well as the epidemiological relationship between them. Results: A total of 28 patients (37.8%) were detected with intestinal colonization by MDR bacteria. Forty-eight non-duplicate MDR bacteria were isolated from their stool samples. Amongst them, the Gram-negative bacteria prevailed (68.8%), dominated by ESBL-producing Escherichia coli (30.3%), and followed by carbapenem-resistant Pseudomonas sp. (24.2%). The Gram-positive bacteria were represented exclusively by Enterococcus faecium (31.2%). The main beta-lactam resistance mechanisms were associated with CTX-M and VIM production. VanA was detected in all vancomycin-resistant enterococci. A clonal relationship was observed among Enterobacter cloacae complex and among E. faecium isolates. Conclusions: To the best of our knowledge, this is the first Bulgarian study that presents detailed information about the prevalence, resistance genetic determinants, and molecular epidemiology of MDR gut-colonizing bacteria in HSCT patients.

#5

Is screening of patients for Pseudomonas aeruginosa groin/rectal carriage useful in identifying those at risk of bacteraemia in haematology and other high-risk clinical settings?

The Journal of hospital infection2024 Oct

Pseudomonas aeruginosa is a leading cause of healthcare-associated infections in patients exposed to hospital waters. A rising incidence of P. aeruginosa bacteraemia at our tertiary teaching hospital prompted investigation. Microbiological screening at patient admission to support early identification of acquisition. A 41-bed haematology ward (800-bed teaching-hospital, London) was surveyed between January 24th, 2020 and May 13th, 2020. Concurrent rectal and groin swabs were collected in duplicate upon admission weekly. Results were compared with historical shower, drain, and tap water contamination data. A total of 606 groin/rectal swabs were collected from 154 patients; 61 female and 93 male. Six out of 154 patients admitted (3.9%) were positive for P. aeruginosa. Two patients (1.3%; 95% confidence interval (CI): 0.16 to 4.6) were colonized at admission while four patients (2.6%; CI: 0.7 to 6.5) became colonized by 33 days (interquartile range: 13 to 54) of stay. Concurrent duplicate sampling yielded both positive and negative results in all colonized patient-cases. One patient subsequently developed P. aeruginosa bacteraemia. Shower water and corresponding drains from the four patient rooms where P. aeruginosa was acquired were heavily contaminated (>300 cfu/100 mL) with P. aeruginosa 265 days (median; range: 247-283) before patient admission. Rectal/groin swab-screening at admission to hospital might be valuable for early detection of patient colonization but it is intrusive, resource-demanding, and yield may be low. In high-risk settings, enhanced environmental monitoring, decontamination of surfaces and drains, and point-of-use filter-barriers is recommended, especially if expected duration of stay exceeds 30 days.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 37

2025

Vaginal Duplication Cyst - A Rare Isolated Anomaly Masquerading as a Colonic Duplication Cyst.

Journal of Indian Association of Pediatric Surgeons
2025

Plasmid mediated colistin resistance in ESBL producing Enterobacterales based on both phenotypic and molecular analysis in companion and farm animals from Algeria.

Comparative immunology, microbiology and infectious diseases
2024

Prevalence and Molecular Epidemiology of Intestinal Colonization by Multidrug-Resistant Bacteria among Hematopoietic Stem-Cell Transplantation Recipients: A Bulgarian Single-Center Study.

Antibiotics (Basel, Switzerland)
2024

Is screening of patients for Pseudomonas aeruginosa groin/rectal carriage useful in identifying those at risk of bacteraemia in haematology and other high-risk clinical settings?

The Journal of hospital infection
2024

Implementation of the WHO Tricycle protocol for surveillance of extended-spectrum β-lactamase producing Escherichia coli in humans, chickens, and the environment in Madagascar: a prospective genomic epidemiology study.

The Lancet. Microbe
2024

Evaluating the Trend of VRE carriages in Health Facilities: A Retrospective Study from 2019-2022.

Annali di igiene : medicina preventiva e di comunita
2023

Prevalence of Colonization with Multidrug-Resistant Bacteria: Results of a 5-Year Active Surveillance in Patients Attending a Teaching Hospital.

Antibiotics (Basel, Switzerland)
2023

Risk factors for nosocomial rectal colonisation with carbapenem-resistant Gram-negative bacilli in children with haematological malignancies: a case-control study.

Annals of clinical microbiology and antimicrobials
2023

Compared to preoperative plasma levels post-operative urokinase-type plasminogen activator-1 levels are persistently elevated for 6 weeks after minimally invasive colorectal resection.

Journal of gastrointestinal oncology
2023

Do NAAT-Based Methods Increase the Diagnostic Sensitivity of Streptococcus agalactiae Carriage Detection in Pregnant Women?

Diagnostics (Basel, Switzerland)
2023

Intestinal colonization of vancomycin-resistant Enterococcus in children admitted to Mofid children's hospital intensive care unit at admission and at discharge.

Molecular biology reports
2022

A case of triple vas deferens complaining of infertility: A challenging case report.

Revista internacional de andrologia
2022

Colonization of Group B Streptococcus in Pregnant Women and Their Neonates from a Sri Lankan Hospital.

Pathogens (Basel, Switzerland)
2022

Escherichia coli ST471 Producing VIM-4 Metallo-β-Lactamase in Colombia.

Microbial drug resistance (Larchmont, N.Y.)
2021

Undetectable Production of the VIM-1 Carbapenemase in an Atlantibacter hermannii Clinical Isolate.

Frontiers in microbiology
2021

Evaluation of HiCrome KPC Agar for the Screening of Carbapenem-Resistant Enterobacterales Colonization in the ICU Setting of a Tertiary Care Hospital.

Journal of laboratory physicians
2021

Whole genome sequence based capsular typing and antimicrobial resistance prediction of Group B streptococcal isolates from colonized pregnant women in Nigeria.

BMC genomics
2021

Frequency and associated factors for carbapenem-non-susceptible Bacteroides fragilis group bacteria colonization in hospitalized patients: Case control study in a university hospital in Turkey.

Indian journal of medical microbiology
2020

Epidemiology and risk factors of rectal colonization of carbapenemase-producing Enterobacteriaceae among high-risk patients from ICU and HSCT wards in a university hospital.

Antimicrobial resistance and infection control
2020

Rectal Swabs as an Alternative Sample Collection Method to Bulk Stool for the Real-Time PCR Detection of Giardia duodenalis.

The American journal of tropical medicine and hygiene
2020

[Etiological diagnosis and clinical evaluation of isolated fetal ascites].

Zhonghua fu chan ke za zhi
2019

Emergence of mcr-1 mediated colistin resistant Escherichia coli from a hospitalized patient in Bangladesh.

Journal of infection in developing countries
2019

Comparison of Four Commercial Screening Assays for the Detection of blaKPC, blaNDM, blaIMP, blaVIM, and blaOXA48 in Rectal Secretion Collected by Swabs.

Microorganisms
2019

The VACTERL association: mosaic mitotic aneuploidy as a cause and a model.

Journal of assisted reproduction and genetics
2019

Colonization by fecal extended-spectrum β-lactamase-producing Enterobacteriaceae and surgical site infections in patients with cancer undergoing gastrointestinal and gynecologic surgery.

American journal of infection control
2018

Molecular detection of vanA and vanB genes among vancomycin-resistant enterococci in ICU-hospitalized patients in Ahvaz in southwest of Iran.

Infection and drug resistance
2018

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.

American journal of medical genetics. Part A
2018

Comparative analysis of Klebsiella pneumoniae strains isolated in 2012-2016 that differ by antibiotic resistance genes and virulence genes profiles.

Pathogens and global health
2018

Diets That Promote Colon Inflammation Associate With Risk of Colorectal Carcinomas That Contain Fusobacterium nucleatum.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2017

Emergence of carbapenem resistant Escherichia coli isolates producing blaNDM and blaOXA-48-like carried on IncA/C and IncL/M plasmids at two Iranian university hospitals.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases
2017

Invasion of HEp-2 cells by Shigella spp. isolated from acute pediatric diarrhea.

GMS infectious diseases
2017

Characterization of Integrons and Resistance Genes in Salmonella Isolates from Farm Animals in Shandong Province, China.

Frontiers in microbiology
2017

Wide rectal duplication cyst in an adult resected by anterior approach: efficacy and recurrence.

Journal of surgical case reports
2017

Outbreak of Imipenemase-1-Producing Carbapenem-Resistant Klebsiella pneumoniae in an Intensive Care Unit.

Korean journal of critical care medicine
2017

Prevalence, risk factors, outcomes, and molecular epidemiology of mcr-1-positive Enterobacteriaceae in patients and healthy adults from China: an epidemiological and clinical study.

The Lancet. Infectious diseases
2015

Comparison of the BD GeneOhm VanR assay and a chromogenic agar-based culture method in screening for vancomycin-resistant enterococci in rectal specimens of pediatric hematology-oncology patients.

The Turkish journal of pediatrics
2015

Detection and characterization of extended-spectrum beta-lactamase-producing Enterobacteriaceae in high-risk patients in an Irish tertiary care hospital.

The Journal of hospital infection

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Doenças relacionadas

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Perguntas frequentes

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Respostas geradas por IA a partir das fontes citadas

É uma malformação congênita rara caracterizada por uma massa cística com mucosa intestinal e músculo liso no espaço retro-retal. Essa alteração costuma se manifestar ainda na infância.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 4 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org
  2. GARD:20122
    GARD (NIH)
  3. Q55785683
    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.

Citar este verbete

Raras. (2026). Duplicação retal isolada. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/duplicacao-retal-isolada

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Duplicação retal isolada

ORPHA:171220 · MONDO:0015734
🇧🇷 Brasil SUS
SIGTAP
5 procedimentos
Geral
CID-10
Q43.4 · Duplicação do intestino
CID-11
UMLS
C4511483
Wikidata

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Dado público estruturado
fonte: Wikidata
Rara