Raras
Buscar doenças, sintomas, genes...
Extrofia clássica da bexiga
ORPHA:93930CID-10 · Q64.1CID-11 · LB31.3DOENÇA RARA

A extrofia da bexiga (ou extrofia clássica da bexiga; ECB) é uma malformação geniturinária congênita que pertence ao grupo de condições do complexo de extrofia-epispádia (CEE) e se caracteriza por uma placa vesical exposta, epispádia e um defeito na parte da frente da pelve, do assoalho pélvico e da parede abdominal.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A extrofia da bexiga (ou extrofia clássica da bexiga; ECB) é uma malformação geniturinária congênita que pertence ao grupo de condições do complexo de extrofia-epispádia (CEE) e se caracteriza por uma placa vesical exposta, epispádia e um defeito na parte da frente da pelve, do assoalho pélvico e da parede abdominal.

Publicações científicas
294 artigos
Último publicado: 2026 Feb 10

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q64.1
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
5 sintomas
🫘
Rins
2 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade do clitóris
Muito frequente (99-80%)
90%prev.
Epispadias
Muito frequente (99-80%)
90%prev.
Refluxo vesicoureteral
Muito frequente (99-80%)
90%prev.
Extrofia da bexiga
Muito frequente (99-80%)
90%prev.
Hipoplasia do pênis
Muito frequente (99-80%)
90%prev.
Hérnia umbilical
Muito frequente (99-80%)
13sintomas
Muito frequente (7)
Frequente (3)
Ocasional (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Anormalidade do clitórisAbnormality of the clitoris
Muito frequente (99-80%)90%
Epispadias
Muito frequente (99-80%)90%
Refluxo vesicoureteralVesicoureteral reflux
Muito frequente (99-80%)90%
Extrofia da bexigaBladder exstrophy
Muito frequente (99-80%)90%
Hipoplasia do pênisHypoplasia of penis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico294PubMed
Últimos 10 anos166publicações
Pico202320 papers
Linha do tempo
2026Hoje · 2026🧪 2014Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.

TP63Tumor protein 63Major susceptibility factor inAltamente restrito
FUNÇÃO

Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (9)
TP53 Regulates Transcription of Genes Involved in Cytochrome C ReleaseRegulation of TP53 Activity through Association with Co-factorsActivation of PUMA and translocation to mitochondriaTP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertainTP53 Regulates Transcription of Death Receptors and Ligands
MECANISMO DE DOENÇA

Acro-dermato-ungual-lacrimal-tooth syndrome

A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Not Sun Exposed Suprapubic
138.8 TPM
Skin Sun Exposed Lower leg
115.7 TPM
Vagina
77.8 TPM
Esôfago - Mucosa
71.8 TPM
Próstata
17.5 TPM
OUTRAS DOENÇAS (15)
orofacial cleft 8limb-mammary syndromepremature ovarian failure 21ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
HGNC:15979UniProt:Q9H3D4
ISL1Insulin gene enhancer protein ISL-1Major susceptibility factor inAltamente restrito
FUNÇÃO

DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1 (

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Regulation of expression of SLITs and ROBOsCardiogenesisSynthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
EXPRESSÃO TECIDUAL(Tecido-específico)
Vagina
28.0 TPM
Próstata
20.8 TPM
Cervix Ectocervix
17.4 TPM
Estômago
10.1 TPM
Esôfago - Junção
4.3 TPM
OUTRAS DOENÇAS (1)
bladder exstrophy
HGNC:6132UniProt:P61371

Variantes genéticas (ClinVar)

227 variantes patogênicas registradas no ClinVar.

🧬 ISL1: GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 ()
🧬 ISL1: GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 ()
🧬 ISL1: GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 ()
🧬 ISL1: GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) ()
🧬 ISL1: GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Extrofia clássica da bexiga

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

2 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
166 papers (10 anos)
#1

Comparison of internal and external rotation of corpora cavernosa in classic bladder exstrophy: A quantitative analysis of urethral coverage.

Journal of pediatric urology2026 Feb 10

In classic bladder exstrophy (CBE), achieving optimal urethral coverage during epispadias repair (ER) remains surgically demanding. This study introduces a novel anatomical maneuver-external rotation (ExR) of the corpora cavernosa (CC)-and quantitatively compares it to internal rotation (InR) to determine which provides superior urethral coverage and penile length. We retrospectively analyzed 29 patients (aged 11-59 months) who underwent primary ER between 2020 and 2024 after prior bladder closure. In each case, the CC were fully mobilized, and neurovascular bundles were dissected to allow both InR and ExR. Each patient served as their own control. Urethral coverage and penile length were measured following both rotational techniques. ExR significantly improved urethral coverage compared to InR (mean difference: 9.79 mm; p < 0.0001). Urethral coverage gain correlated positively with patient age (rho = 0.6182, p = 0.0004), suggesting greater benefit in older children. All patients demonstrated an increase in coverage after ExR. A positive correlation was observed between age and the magnitude of coverage increase, although CC length was not directly measured. Two urethrocutaneous fistulas (6.9 %) occurred; one resolved after catheterization and one required surgical revision. ExR of the corpora cavernosa is a simple yet effective modification that offers greater urethral coverage in ER for CBE. These findings support its use-particularly in patients with an adequate urethral plate-as a preferable alternative to the traditional InR approach. Further studies with long-term outcomes are recommended.

#2

Update and mid-term follow up of classic bladder exstrophy managed by the Toronto approach (Modified staged repair): Continence status, sexual function and upper tract functional outcomes.

Journal of pediatric urology2026 Apr

The modified staged repair, or Toronto approach to reconstruct classic bladder exstrophy, involves bladder neck (BN) tailoring and bilateral ureteral reimplantation during primary closure, and later epispadias repair using external corpora rotation and a rotational penile skin flap. It aims to incorporate the advantages of complete primary repair while minimizing risks of upper tract deterioration and penile ischemia and improve cosmetic appearance of the genitalia. We present long-term outcomes for our initial patient series. All patients with initial operation between 2000 and 2014 were reviewed. Data on demographics, continence, erectile and ejaculatory function, cosmetic appearance of the genitalia, and upper tract status were collected. Twelve male and four female patients were identified, with median follow-up of 12.7 (IQR 10.9-15.4) and 12.5 years (IQR 10.6-15.6), respectively. Full continence (voiding with no leaks, dry periods ≥3 h) was achieved in two of 12 males and two of four females. Five of 12 males and all four females had dry periods longer than 1 h. Nine of 12 males and all females attained volitional voiding. Three of 12 males and one of four females underwent additional continence procedures. None have undergone augmentation cystoplasty or bladder neck closure. Of seven males with preliminary sexual function data, all experienced erections, straight in five, with recurrent dorsal curvature and ventral curvature in one patient each. Four of seven ejaculate and none have attempted penetrative intercourse. All seven males reported satisfactory cosmetic appearance despite a subjectively shorter penis. Although transitory dilations of the ureters were seen immediately post op, none had scarring, hydronephrosis, or febrile urinary tract infections at latest follow-up. One patient had an eGFR on the upper range of CKD 2, while the rest of the cohort had eGFR ≥ 90 mL/min/1.73m2. Mean bladder capacity on ultrasound was 145 mL for males and 97 mL for females. The present data suggests that the modified staged repair of exstrophy (Toronto approach) is associated with acceptable continence outcomes while minimizing escalation to augmentation cystoplasty and bladder neck closure. Most patients void volitionally and stay dry for 1-3 h, but few are fully continent or able to remain dry for 3 h or more. No patients in the cohort had CKD3 or worse, and none had hydronephrosis or history of febrile urinary tract infections. Most males experience ejaculation and straight erections. There was no glanular or corporal tissue loss.

#3

Early findings on OnabotulinumtoxinA for postoperative pain control in bladder exstrophy.

Journal of pediatric urology2026 Feb

Postoperative pain management in bladder reconstruction and exstrophy closure is challenging due to unique physiological differences in exstrophy patients, surgical complexity, and heightened risk of painful bladder spasms. While opioids and anticholinergics are used for pain relief, their prolonged use is associated with complications. We sought to evaluate postoperative benefits of OnabotulinumtoxinA (Botox) injections in patients with classic bladder exstrophy (CBE) and cloacal exstrophy (CE) undergoing bladder reconstruction or exstrophy closure. CBE and CE patients who underwent bladder reconstruction or exstrophy closure between 2018 and 2024 were identified from an institutional database. Bladder reconstruction was defined as any combination of the following procedures - bladder neck reconstruction, bladder neck transection, Mitrofanoff or Monti catheterizable channel creation, and bladder augmentation. Reconstructive patients were stratified by concurrent ureteral reimplants necessitating ureteral stent placement. Data on postoperative course, medications, and complications were collected. Among 48 patients undergoing bladder reconstruction, 14 received Botox and 34 did not. Of the 34 exstrophy closures, 12 received Botox and 22 did not. In patients undergoing bladder reconstruction without ureteral reimplants necessitating ureteral stents, Botox significantly reduced oxybutynin use (0.09 mg/kg/day vs. 0.15 mg/kg/day, p = 0.02) and oxycodone use (0.00 mg/kg/day vs. 0.11 mg/kg/day, p = 0.03). These patients also experienced fewer days with pain scores above 0 (4.00 days vs. 10.00 days, p = 0.04) and above 4 (2.00 days vs. 6.00 days, p = 0.04). In contrast, bladder reconstruction patients with ureteral reimplantation necessitating ureteral stents showed no significant differences in medication use or pain scores (all p > 0.05). Botox did not significantly impact postoperative course, medication requirements, in exstrophy closures (all p > 0.05). Botox injections significantly improved postoperative outcomes and reduced medication use in exstrophy patients undergoing bladder reconstruction without ureteral reimplantation that necessitate ureteral stent placement. However, there was no statistical significance noted in the intervention group compared to controls in cases involving ureteral reimplantation with stent placement. Furthermore, Botox showed no postoperative advantages in exstrophy closure, where surgical complexity may limit its therapeutic efficacy. Limitations include the retrospective design and small sample size. Intraoperative Botox reduced opioid and anticholinergic use, as well as postoperative pain, among exstrophy patients undergoing bladder reconstruction without ureteral reimplants requiring ureteral stents. This demonstrates its potential as an effective adjunct for postoperative pain in exstrophy patients undergoing select reconstruction.

#4

Letter to the Editor re: "Long-term sexual outcomes in classic bladder exstrophy: Insights from standardized scores".

Journal of pediatric urology2026 Feb 23
#5

Response to Letter to the Editor re: "Long-term sexual outcomes in classic bladder exstrophy: Insights from standardized scores".

Journal of pediatric urology2026 Jan 23

Publicações recentes

Ver todas no PubMed

📚 EuropePMC124 artigos no totalmostrando 154

2026

Comparison of internal and external rotation of corpora cavernosa in classic bladder exstrophy: A quantitative analysis of urethral coverage.

Journal of pediatric urology
2025

Long-term sexual outcomes in classic bladder exstrophy: Insights from standardized scores.

Journal of pediatric urology
2026

Commentary to "Update and mid-term follow up of classic bladder exstrophy managed by the Toronto approach (modified staged repair): Continence status, sexual function and upper tract functional outcomes".

Journal of pediatric urology
2026

Update and mid-term follow up of classic bladder exstrophy managed by the Toronto approach (Modified staged repair): Continence status, sexual function and upper tract functional outcomes.

Journal of pediatric urology
2025

Management of pregnancy in a patient with previous surgical repair of classic bladder exstrophy.

International journal of surgery case reports
2025

Management of incontinence after classic bladder exstrophy closure.

Actas urologicas espanolas
2025

One-hundred-fifteen consecutive bladder exstrophies successfully closed in a single nationally commissioned centre.

Journal of pediatric urology
2026

Early findings on OnabotulinumtoxinA for postoperative pain control in bladder exstrophy.

Journal of pediatric urology
2025

Augmentation cystoplasty and continent catheterizable channels in the bladder exstrophy-epispadias complex: A 20-year experience.

Journal of pediatric urology
2025

Long-term follow-up reveals complexity of urinary and faecal continence outcomes in patients with classic bladder exstrophy.

BJU international
2025

Multidisciplinary Management of Pregnancy in Bladder Exstrophy: A Case Report.

The American journal of case reports
2025

Failure of Prenatal Ultrasonography to Identify Classic Bladder Exstrophy in a Heavily Screened Population.

Urology
2025

Long-term urinary outcomes in classic bladder exstrophy: results of an extensive follow-up.

BJU international
2025

Will my Child Walk Funny? The Rotational Profile of Infants and Children With Classic Bladder Exstrophy.

Journal of pediatric orthopedics
2025

Duplicate bladder exstrophy in a female infant: A case report.

Urology case reports
2024

Bladder exstrophy-epispadias-cloacal exstrophy complex: characteristics, aetiologies, and epidemiologic findings.

African urology
2024

Classic Bladder Exstrophy - Timing of initial closure and technical highlights.

African urology
2025

Subperiosteal Tunneled Allograft Reconstruction of the Symphyseal Ligaments (STARS) in Bladder Exstrophy Epispadias Complex.

Journal of pediatric orthopedics
2025

End-stage and chronic kidney disease in classic bladder exstrophy: A retrospective muti-institutional cohort study.

Journal of pediatric urology
2024

EZH2 specifically regulates ISL1 during embryonic urinary tract formation.

Scientific reports
2024

Modified penile reconstruction in classic bladder exstrophy: Can complete corporal covering of the urethral closure be achieved using incomplete disassembly technique?

International braz j urol : official journal of the Brazilian Society of Urology
2024

Stomal Stenosis After Continent Urinary Diversion in Bladder Exstrophy: Risk Factors and Management.

Urology
2024

Redo surgery to improve urinary function, sexual function and cosmesis in male patients with exstrophy-epispadias complex complications. Technical principles and pearls based on case scenarios.

Journal of pediatric urology
2024

Bladder exstrophy-epispadias complex: The effect of urotherapy on incontinence.

Journal of pediatric urology
2024

Long-term psychosexual adjustment of adults born with classic bladder exstrophy.

Journal of pediatric urology
2024

An Analysis of the Efficacy of Multilayered Repair and Reconstruction Using Combined Tissue Pedicle Flaps for Abdominal Wall Defects in Adult Bladder Exstrophy Patients.

Annals of plastic surgery
2024

Innervation pattern of the unclosed detrusor muscle in classic bladder exstrophy: a study of patients with urothelial overexpression of nerve growth factor.

Pediatric surgery international
2024

Optimizing prenatal diagnosis and referral of classic bladder exstrophy: Lessons from a single-institution experience.

Journal of pediatric urology
2024

Interposing Rectus and Gracilis Muscle Flaps for Pelvic Reconstruction in Bladder Exstrophy after Bladder Neck Closure.

Plastic and reconstructive surgery
2024

Supravesical Fissure Variant of Bladder Exstrophy in a Female Patient: Case Report and Review of Literature.

Urology
2024

Perioperative management of primary classic bladder exstrophy: A single institutional pathway to success.

Journal of pediatric urology
2024

The true pelvic volume change with various corrective osteotomy techniques for exstrophy-epispadias complex spectrum: the value of computer-assisted virtual surgery.

Journal of pediatric orthopedics. Part B
2024

Superior Vesical Fissure as an Incomplete Form of Bladder Exstrophy: A Case Report with Clinico-Pathological Correlation and a Comprehensive Literature Review.

International journal of surgical pathology
2023

Classic Bladder Exstrophy Closure Without Osteotomy or Immobilization: An Exercise in Futility?

Urology
2023

Presentations of bladder exstrophy in a resource-limited setting and the role of Mainz II continent diversion for late referrals or failed primary closures: a multicentric report.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2023

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

Biomolecules
2023

The outcome and complications of modern staged repair surgery in newborns with classic bladder exstrophy in different genders: A retrospective study.

Birth defects research
2023

Classical bladder exstrophy in an adolescent: A case report on management, challenges and outcome.

African journal of paediatric surgery : AJPS
2024

Long term outcomes in classic bladder exstrophy - The adult picture.

Journal of pediatric urology
2023

Urethral Plate Grafting for Deficient Urethral Plate in Exstrophy: An Alternative Method to Augment Urethral Plate.

Journal of pediatric surgery
2023

Mucosal Violations and Their Effect on Successful Bladder Neck Closure in Cloacal Exstrophy.

Journal of pediatric surgery
2023

Achieving goal capacity for continence surgery: A cumulative event analysis of bladder exstrophy patients.

Journal of pediatric urology
2023

Bladder capacity and growth in classic bladder exstrophy: A novel predictive tool.

Journal of pediatric urology
2023

Rare case of superior vesical fissure with hypospadias: variants of classic bladder exstrophy.

World journal of pediatric surgery
2023

The impact of repeated bladder surgery on successful bladder neck closure in classic bladder exstrophy: The role of mucosal violations.

Journal of pediatric urology
2023

Spinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.

Journal of neurosurgery. Pediatrics
2023

Inflammatory Expression Profiles in Bladder Exstrophy Smooth Muscle: Normalization Over Time.

Urology
2023

A Single Center's Changing Trends in the Management and Outcomes of Primary Closure of Classic Bladder Exstrophy: An Evolving Landscape.

Urology
2023

A Triplicated Bladder with Diphallia; Rare Variant of Duplicate Exstrophy.

Research and reports in urology
2023

Complications of delayed and newborn primary closures of classic bladder exstrophy: Is there a difference?

Journal of pediatric urology
2023

Fixation with lower limb immobilization in primary and secondary exstrophy closure: A saving grace.

Journal of pediatric urology
2023

Delayed Surgical Management of an Unusual Classic Bladder Exstrophy Variant.

Urology
2023

The use of a modified tanagho flap in the repair of posterior urethral stricture after primary exstrophy closure.

Journal of pediatric urology
2022

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

Communications biology
2023

Application of Tunica Vaginalis Flap for Epispadias Repair in the Epispadias-Exstrophy Complex.

Urology
2022

Orthopedic complications after osteotomy in patients with classic bladder exstrophy and cloacal exstrophy: a comparative study.

Journal of pediatric urology
2022

Mini-open Anterior Pelvic Osteotomy and Spica Casting for Primary Closure of the Pelvis in Infants With Classic Bladder Exstrophy.

Journal of pediatric orthopedics
2022

Exstrophy-Epispadias Complex With Isolated Ectopic Bowel Segment: A Case Series and Literature Review.

Urology
2022

Bladder exstrophy: Modern staged repair experience in our institution.

African journal of paediatric surgery : AJPS
2022

Insights and outcomes of single-staged repair of female bladder exstrophy-epispadias complex without osteotomy: 15 Years experience of a single institution.

Journal of pediatric urology
2022

An evaluation of perioperative surgical procedures and complications in classic bladder exstrophy patients Using the National Surgical Quality Improvement Program-Pediatric (NSQIP-P).

Journal of pediatric urology
2022

Sexual health outcomes after penile reconstruction in the exstrophy-epispadias complex.

Journal of pediatric urology
2022

Pelvic Floor Anatomical Variations in Children With Exstrophy-Epispadias Complex Using Magnetic Resonance Imaging.

Urology
2022

Delayed primary closure of bladder exstrophy without osteotomy: 12 year experience in a safe and gentle alternative to neonatal surgery.

Journal of pediatric surgery
2022

Bilateral ureteral reimplantation at complete primary repair of exstrophy: Post-operative outcomes.

Journal of pediatric urology
2021

Long-term urological and gynecological outcomes following complete primary repair in females with bladder exstrophy.

Journal of pediatric urology
2021

Persistent urothelial differentiation changes in the reconstructed exstrophic bladder: Congenital or acquired dysfunction of the epithelial barrier?

Journal of pediatric urology
2021

Commentary to 'Osteotomy in the newborn classic bladder exstrophy patient: A comparative study'.

Journal of pediatric urology
2021

The Richard Grady Monsplasty: A vertical Z-plasty technique.

Journal of pediatric urology
2021

Osteotomy in the newborn classic bladder exstrophy patient: A comparative study.

Journal of pediatric urology
2021

Expression of Low Affinity Nerve Growth Factor Receptor p75 in Classic Bladder Exstrophy.

Frontiers in pediatrics
2022

Congenital Heart Defects in Patients with Classic Bladder Exstrophy: A Hitherto Neglected Association?

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2021

Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management.

The Journal of urology
2021

Role of the Pubic Symphysis in Osseous Pelvic Development: A Novel Model of Bladder Exstrophy in Rabbits.

Journal of pediatric orthopedics
2021

Pedicled Anterolateral Thigh and Radial Forearm Free Flap Phalloplasty for Penile Reconstruction in Patients With Bladder Exstrophy.

The Journal of urology
2020

Assessment of the anterior osteotomy role in the restoration of normal pelvic floor anatomy for bladder exstrophy patients using pre and postoperative pelvic floor MRI.

Journal of pediatric urology
2020

Delaying primary closure of classic bladder exstrophy: When is it too late?

Journal of pediatric urology
2020

Ileal Neobladder With A Continent Cutaneous Catheterizable Channel Using the Extramural Serous Lined (Mansoura) Technique in A Bladder Exstrophy Patient.

Urology
2020

Volumetric and acetabular changes in the bony pelvis associated with primary closure of classic bladder exstrophy.

Journal of pediatric urology
2021

Single-staged male bladder exstrophy-epispadias complex reconstruction with pubic bone adaptation without osteotomy: 15-year single-center experience.

International urology and nephrology
2020

SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Frontiers in cell and developmental biology
2020

Development of Late Continence in Bladder Exstrophy and Epispadias Patients.

Urology
2020

Evaluation of outcomes following complete primary repair of bladder exstrophy at three individual sites prior to the establishment of a multi-institutional collaborative model.

Journal of pediatric urology
2020

Classic bladder exstrophy and complete rectal prolapse in a 10 year-old child with no previous surgical intervention: what to achieve?

Journal of surgical case reports
2020

Practice patterns in classic bladder exstrophy: A global perspective.

Journal of pediatric urology
2020

Penile Disassembly in Complete Primary Repair of Bladder Exstrophy: Time for Re-evaluation?

Urology
2019

Probability of Bladder Augmentation, Diversion and Clean Intermittent Catheterization in Classic Bladder Exstrophy: A 36-Year, Multi-Institutional, Retrospective Cohort Study.

The Journal of urology
2020

Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective.

The Journal of urology
2019

[Appllication of human acellular dermal matrix in surgical treatment of genitourinary disease].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2019

The role of anatomic pelvic dissection in the successful closure of bladder exstrophy: an aid to success.

Journal of pediatric urology
2019

Commentary to 'Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy'.

Journal of pediatric urology
2019

Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association.

Cancer genetics
2019

Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation.

Current urology reports
2019

Isolated bladder exstrophy in prenatal diagnosis.

Archives of gynecology and obstetrics
2019

Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy.

Journal of pediatric urology
2019

3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial.

The Journal of urology
2019

Continuous caudal epidural analgesia and early feeding in delayed bladder exstrophy repair: a nine-year experience.

Journal of pediatric urology
2019

Management of Recurrent Pelvic Fluid Collections in Adult Male Bladder Exstrophy Patients With Maintenance of Erectile Function.

Urology
2018

Towards a Central Role of ISL1 in the Bladder Exstrophy⁻Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling.

Genes
2020

Modern Management of the Failed Bladder Exstrophy Closure: A 50-yr Experience.

European urology focus
2018

One-stage combined delayed bladder closure with Kelly radical soft-tissue mobilization in bladder exstrophy: preliminary results.

Journal of pediatric urology
2018

Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex.

Urology
2018

A Borderline Ovarian Tumour in a Patient with Classic Bladder Exstrophy; a Case Report.

Irish medical journal
2018

Predictors and outcomes of perioperative blood transfusions in classic bladder exstrophy repair: A single institution study.

Journal of pediatric urology
2018

The inadequate bladder template: Its effect on outcomes in classic bladder exstrophy.

Journal of pediatric urology
2018

Novel Anatomical Observations of the Prostate, Prostatic Vasculature and Penile Vasculature in Classic Bladder Exstrophy Using Magnetic Resonance Imaging.

The Journal of urology
2018

Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report.

Urology
2018

Novel Observations of Female Genital Anatomy in Classic Bladder Exstrophy Using 3-Dimensional Magnetic Resonance Imaging Reconstruction.

The Journal of urology
2018

The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex.

Urology
2018

Complete Primary Repair of Bladder Exstrophy: Critical Analysis of the Long-term Outcome.

Urology
2018

How to close classic bladder exstrophy: Are subspecialty training and technique important?

Journal of pediatric urology
2018

Pelvic Organ Prolapse and Pregnancy in the Female Bladder Exstrophy Patient.

Current urology reports
2018

Bladder Re-augmentation in Classic Bladder Exstrophy: Risk Factors and Prevention.

Urology
2018

Bladder exstrophy closure in the newborn period with external pelvic fixation performed without osteotomy: A preliminary report.

Journal of pediatric urology
2018

Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.

Human molecular genetics
2017

Re: Use of Human Acellular Dermal Matrix during Classic Bladder Exstrophy Repair.

The Journal of urology
2018

Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes.

Urology
2017

Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy.

Journal of pediatric genetics
2017

Long-term fate of the upper tracts following complete primary repair of bladder exstrophy.

Journal of pediatric urology
2017

Repair of Vesicocutaneous and Urethrocutaneous Fistulae with Rectus Muscle Flap in a Bladder Exstrophy Patient.

Urology case reports
2017

Long-term sexual health outcomes in men with classic bladder exstrophy.

BJU international
2017

Re: Peri-Operative Transfusion Risk in Classic Bladder Exstrophy Closure: Results from a National Database Review.

The Journal of urology
2017

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

Scientific reports
2017

Continent Anal Urinary Diversion in Classic Bladder Exstrophy: 45-Year Experience.

Urology
2017

Failed Primary Bladder Exstrophy Closure with Osteotomy: Multivariable Analysis of a 25-Year Experience.

The Journal of urology
2016

The long-term outcomes after staged repair of exstrophy-epispadias complex.

Journal of Indian Association of Pediatric Surgeons
2016

Spontaneous bladder rupture in non-augmented bladder exstrophy.

Journal of pediatric urology
2016

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

Journal of pediatric urology
2016

Peri-operative transfusion risk in classic bladder exstrophy closure: Results from a national database review.

Journal of pediatric urology
2016

A critical appraisal of continence in bladder exstrophy: Long-term outcomes of the complete primary repair.

Journal of pediatric urology
2016

Impact of concomitant hernia repair at the time of complete primary repair of bladder exstrophy.

Journal of pediatric urology
2016

Is 1p36 deletion associated with anterior body wall defects?

American journal of medical genetics. Part A
2016

Use of muscle pedicle flaps for failed bladder neck closure in the exstrophy spectrum.

Journal of pediatric urology
2016

Iliac wing osteotomy for the closure of pelvis in the treatment of bladder exstrophy in the neonate.

Journal of pediatric orthopedics. Part B
2016

Commentary to "Use of human acellular dermal matrix during classic bladder exstrophy repair".

Journal of pediatric urology
2016

Sexual Function and Fertility of Women with Classic Bladder Exstrophy and Continent Urinary Diversion.

The Journal of urology
2016

Use of human acellular dermal matrix during classic bladder exstrophy repair.

Journal of pediatric urology
2016

Duplicated Renal Collecting System With Ectopic Ureter in Female Bladder Exstrophy: A Case Report.

Urology
2016

The cost of failure: The economic impact of failed primary closure in classic bladder exstrophy.

Journal of pediatric surgery
2015

Re: Sexual Function and Health-Related Quality of Life in Women with Classic Bladder Exstrophy.

The Journal of urology
2015

Exstrophy-Epispadias Complex in a Newborn: Case Report and Review of the Literature.

AJP reports
2016

Sexual Function, Social Integration and Paternity of Males with Classic Bladder Exstrophy following Urinary Diversion.

The Journal of urology
2015

The radical soft-tissue mobilization (Kelly repair) for bladder exstrophy.

Journal of pediatric urology
2016

Medicinal Leech Therapy for Glans Penis Congestion After Primary Bladder Exstrophy-Epispadias Repair in an Infant: A Case Report.

Urology
2016

Newborn exstrophy closure without osteotomy: Is there a role?

Journal of pediatric urology
2015

The Tunica Vaginalis Flap as an Adjunct to Epispadias Repair: A Preliminary Report.

Urology
2015

Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe.

Journal of pediatric urology
2016

Can Classic Bladder Exstrophy be Safely and Successfully Reconstructed at a Low Volume Center?

The Journal of urology
2016

Incidence of Hip Dysplasia Associated With Bladder Exstrophy.

Journal of pediatric orthopedics
2015

Sexual function in adult patients with classic bladder exstrophy: A multicenter study.

Journal of pediatric urology
2015

Secondary reclosure in classic bladder exstrophy: challenges and outcomes.

Urology
2015

Psychosocial screening at paediatric BEEC clinics: a pilot evaluation study.

Journal of pediatric urology
2015

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

PLoS genetics
2015

Intra thoracic migration of ureteric stent after exstrophy bladder closure: Unusual complication.

African journal of paediatric surgery : AJPS

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Extrofia clássica da bexiga.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Extrofia clássica da bexiga

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

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. Comparison of internal and external rotation of corpora cavernosa in classic bladder exstrophy: A quantitative analysis of urethral coverage.
    Journal of pediatric urology· 2026· PMID 41740234mais citado
  2. Update and mid-term follow up of classic bladder exstrophy managed by the Toronto approach (Modified staged repair): Continence status, sexual function and upper tract functional outcomes.
    Journal of pediatric urology· 2026· PMID 41494924mais citado
  3. Early findings on OnabotulinumtoxinA for postoperative pain control in bladder exstrophy.
    Journal of pediatric urology· 2026· PMID 40447504mais citado
  4. Letter to the Editor re: "Long-term sexual outcomes in classic bladder exstrophy: Insights from standardized scores".
    Journal of pediatric urology· 2026· PMID 41735119mais citado
  5. Response to Letter to the Editor re: "Long-term sexual outcomes in classic bladder exstrophy: Insights from standardized scores".
    Journal of pediatric urology· 2026· PMID 41680001mais citado
  6. Response to Commentary on "Update and mid-term follow up of classic bladder exstrophy managed by the Toronto Approach (Modified Staged Repair): Continence status, sexual function and upper tract functional outcomes".
    J Pediatr Urol· 2026· PMID 41667294recente
  7. Long-term sexual outcomes in classic bladder exstrophy: Insights from standardized scores.
    J Pediatr Urol· 2025· PMID 41549041recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:93930(Orphanet)
  2. MONDO:0010805(MONDO)
  3. GARD:6398(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q258858(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

Extrofia clássica da bexiga
Compêndio · Raras BR

Extrofia clássica da bexiga

ORPHA:93930 · MONDO:0010805
Prevalência
1-9 / 100 000
Herança
Multigenic/multifactorial
CID-10
Q64.1 · Extrofia vesical
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0005689
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades