RESUMO
INTRODUCTION: Patients with anorectal malformations (ARMs) have a high incidence of genitourinary anomalies. Those with a recto-bladder neck fistula may represent a high-risk group, but their long-term urologic outcomes are poorly described. OBJECTIVE: To evaluate the clinical and urodynamic outcomes in a large cohort of patients with an ARM subtype of recto-bladder neck fistula. MATERIALS AND METHODS: A retrospective cohort study was performed of patients who had been treated for a recto-bladder neck fistula at the present institution since 2007. The primary outcomes were the ability to achieve urinary continence after 4 years of age, and development of a mildly decreased glomerular filtration rate (GFR) or worse (<89 ml/min/1.73 m2). Continence was defined as the ability to store urine for 3-4 h during the day and 8 h overnight without leakage. RESULTS: Demographic and clinical data are provided in the Summary Table. The most recent urodynamic findings included the presence of detrusor overactivity in 30 (75%) patients, median leak point pressure of 56.0 cmH2O (range, 14-140), median functional cystometric capacity at 40 cmH2O of 125.5% age-expected capacity (range, 36-473%), and median maximum cystometric capacity of 131.0% age-expected capacity (range, 44-473%). A mildly decreased GFR or worse developed in 13 (24%) patients. Of the 52 (78%) patients who were followed by pediatric urology at the present institution with a median follow-up of 30.9 months (range, 0.0-86.8), 35 (67%) were at least 4 years of age and could be assessed for continence. Continence was achieved in five (14%) patients voiding spontaneously and 15 (43%) performing CIC. Recurrent urinary tract infections (UTI) (OR 0.70, P = 0.006) were an independent predictor of incontinence, while urethral anomalies (OR 1.40, P = 0.03) were an independent predictor of chronic kidney disease (CKD) on multiple logistic regression analysis. DISCUSSION: The findings favorably compared with other studies, but were more robust due to the size of the cohort and breadth of urologic evaluation. Limitations included the retrospective design at a single institution. Incomplete clinical data and misclassification of continence may have lead to bias. CONCLUSIONS: This large cohort of patients with an ARM subtype of recto-bladder neck fistula had a high incidence of genitourinary anomalies. They were rarely able to achieve continence with spontaneous voiding alone and were at risk of developing CKD, both of which were likely multifocal in origin. Long-term urologic follow-up is warranted for patients with a recto-bladder neck fistula.
Assuntos
Malformações Anorretais/fisiopatologia , Malformações Anorretais/cirurgia , Fístula Retal/fisiopatologia , Fístula Retal/cirurgia , Fístula da Bexiga Urinária/fisiopatologia , Fístula da Bexiga Urinária/cirurgia , Malformações Anorretais/complicações , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Fístula Retal/complicações , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Fístula da Bexiga Urinária/complicações , Incontinência Urinária/etiologia , Incontinência Urinária/prevenção & controle , UrodinâmicaRESUMO
ABSTRACT Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed. Case presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated. Conclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre- and postnatal diagnosis, genetic counseling and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.
RESUMEN Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bffida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una poli-malformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatologia aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.
RESUMO
RESUMEN Introducción: el Síndrome Townes-Brocks es una enfermedad genética malformativa, que se hereda de forma autosómica dominante, con penetrancia completa y expresividad muy variable. Caracterizada por una triada de defectos congénitos nivel de oído externo, anorrectales, y en la parte distal de las extremidades, sobre todo a nivel de los pulgares, causado por mutaciones en el gen SALL1, que codifica para el factor de transcripción, localizado en cromosoma 16q12.1. Presentación de caso: se presenta una lactante de nueve meses que al nacimiento se diagnosticó ano imperforado, apéndices preauriculares y primer dedo bífido. Se realizó de inmediato el diagnóstico clínico y la intervención quirúrgica que terminó en colostomía bien tolerada, se logró buena nutrición y desarrollo psicomotor. Conclusiones: se considera el diagnóstico clínico precoz, importante para efectuar intervenciones oportunas que permitan mejorar las funciones vitales de estos enfermos, así como brindar un adecuado asesoramiento genético a las familias.
ABSTRACT Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1. Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development. Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.
RESUMO
RESUMEN El complejo onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS) es una combinación de malformaciones congénitas severas y extremadamente raras. Su incidencia es estimada en 1 por cada 200.000 - 400.000 nacidos vivos. La aparición de los casos es esporádica y no tiene una etiología conocida. Algunos han sido asociados a exposiciones ambientales, causas genéticas y procedimientos de fertilización in vitro. El mecanismo de desarrollo parece asociado a alteraciones de la blastogénesis temprana o defecto de la migración mesodérmica durante el período embrionario. El diagnóstico prenatal puede realizarse a las 16 semanas de gestación, aunque en ocasiones es posible un diagnóstico más temprano. Su diagnóstico definitivo se realiza con los hallazgos de la necropsia. La mayoría de los recién nacidos supervivientes necesitan múltiples cirugías con complicaciones potenciales y no siempre se alcanza los resultados deseados. Se presenta un caso de diagnóstico prenatal de onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (complejo OEIS).
ABSTRACT Omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex) is a combination of severe and extremely rare congenital malformations. Its incidence is estimated at 1 per 200,000 - 400,000 live births. The occurrence of cases is sporadic and has no known etiology. Some have been associated with environmental exposures, genetic causes, and in vitro fertilization procedures. The mechanism of development appears to be associated with alterations in early blastogenesis or defect in mesodermal migration during the embryonic period. Prenatal diagnosis can be made at 16 weeks of gestation, although earlier diagnosis is sometimes possible. Definitive diagnosis is made necropsy findings. Most surviving newborns require multiple surgeries with potential complications and the desired results are not always achieved. A case of prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies (OEIS complex) is presented.
RESUMO
PURPOSE: To determine the effect of a single dose of adriamycin (ADR) to induce anorectal malformations (ARMs) and determine the effect of folic acid (FA) in this model. METHODS: Ten female Wistar rats were divided randomly in two groups. Group A - ADR; Group B - FA+ADR. Dams from group B received daily, since two weeks before the pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from both groups received ADR (6mk/kg) by intraperitoneal injection on gestational day (GD) 8. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p≤0.05*. RESULTS: 81 fetuses were harvested. The number of fetuses; number of ARMs; mean (∆%) (± SD) were determined to be, respectively: ADR - 41[29;65%(±37%)] versus FA+ADR - 40[04;16%(±36%)] (p=0.05). AMRs were significantly lower in FA+ADR group than in ADR group (p=0.05). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ADR - [25.98(±0.74) and 19.48(±1.68)] versus FA+ADR - [24.74(±0.91) and 24.80(±0.81)] (p<0.005). The thickness of IE was significantly enlarged when FA was given (p<0.005). CONCLUSIONS: Single dose of adriamycin on D8 was able to induce anorectal malformations. Folic acid reduces the number and enlarged the IE of ARMs ADR-induced.
Assuntos
Animais , Feminino , Gravidez , Anus Imperfurado/prevenção & controle , Ácido Fólico/administração & dosagem , Anus Imperfurado/induzido quimicamente , Anus Imperfurado/patologia , Modelos Animais de Doenças , Doxorrubicina , Epitélio/anormalidades , Epitélio/patologia , Feto/anormalidades , Distribuição Aleatória , Ratos Wistar , Inibidores da Topoisomerase IIRESUMO
PURPOSE: To investigate the effect of folic acid (FA) in an experimental model of anorectal malformations (ARMs) ethylenethiourea (ETU) induced.METHODS:Eight female Wistar rats were divided randomly in two groups. Group A - ETU; Group B - FA+ETU; Dams from group B received daily, since two weeks before pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from groups A and B, received 1% ETU (125mk/kg) by gavage on gestational day (GD) 11. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p<0.05*.RESULTS:One hundred and one embryos were harvested. The number of embryos; number of ARMs; mean statistical % (± SD) were determined to be, respectively: ETU - 49 [30;65% (±24%)] versus FA+ETU - 52 [1;02% (±3%)] (p=0.025). AMRs were significantly lower in FA+ETU group than in ETU group (p=0.025). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ETU - [27.75 (±0.56) and 18.88 (±0.93)] versus FA+ETU - [28.88 (±0.61) and 21.11 (±0.16)] (p=0.001). The thickness of IE was significantly enlarged when FA was given (p=0.001).CONCLUSION:Folic acid reduces the number and enlarged the IE of ARMs ETU-induced.
Assuntos
Animais , Feminino , Gravidez , Anus Imperfurado/prevenção & controle , Ácido Fólico/uso terapêutico , Complexo Vitamínico B/uso terapêutico , Canal Anal/anormalidades , Canal Anal/embriologia , Anus Imperfurado/induzido quimicamente , Modelos Animais de Doenças , Etilenotioureia , Feto/anormalidades , Distribuição Aleatória , Ratos Wistar , Reprodutibilidade dos Testes , Reto/anormalidades , Reto/embriologiaRESUMO
A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.
Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.
Assuntos
Humanos , Recém-Nascido , Masculino , Anormalidades Múltiplas , Anus Imperfurado/complicações , Criptorquidismo/complicações , Hamartoma/complicações , Períneo/anormalidades , Anus Imperfurado/cirurgia , Criptorquidismo/cirurgia , Hamartoma/diagnóstico , Hamartoma/cirurgia , Doenças Raras/complicações , Doenças Raras/cirurgiaRESUMO
The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome. (AU)
A síndrome de Peutz-Jeghers é uma doença rara que tem como características a pigmentação melânica mucocutânea de lábios, regiões perioral e de mucosa bucal associada à polipose hamartomatosa do trato intestinal, com possibilidade de malignização dos pólipos digestivos e associação com outros tipos de câncer. Relato de Caso: Paciente de 32 anos, de gênero feminino, branca, apresentou um quadro de oclusão intestinal por uma invaginação, evidenciada durante laparotomia exploradora, constatando-se, ainda, a presença de uma tumoração intestinal. O material foi encaminhado para exame anatomopatológico; porém, foi inconclusivo para a natureza da tumoração em decorrência da necrose. Em função do pólipo intestinal, a paciente foi encaminhada ao nosso serviço, quando percebemos a presença de pigmentação melânica característica. Realizamos videocolonoscopia com achado de dois pólipos de reto cujo resultado do exame anatomopatológico foi de pólipo hamartomatoso. A paciente relatou ainda ter nascido com imperfuração anal e possuir irmão que também nascera com a mesma imperfuração e que evoluiu para óbito não esclarecido. Não encontramos relato na literatura de associação da síndrome de Peutz-Jeghers com imperfuração anal e interrogamos se o irmão teria também a síndrome. (AU)
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Humanos , Feminino , Adulto , Pólipos , Reto , Síndrome de Peutz-Jeghers/diagnóstico , Pigmentação da Pele , Colonoscopia , HamartomaRESUMO
OBJETIVO: Relatar o caso de uma criança com síndrome de Currarino diagnosticada após avaliação por episódios recorrentes de infecção urinária. DESCRIÇÃO DE CASO: Menina branca de dois anos, única filha de pais hígidos e sem história familiar de defeitos congênitos. A criança nasceu com imperfuração anal e com fístula retovestibular diagnosticadas no primeiro dia de vida. Por volta dos sete meses, começou a apresentar episódios recorrentes de infecção urinária, estabelecendo-se o diagnóstico de bexiga neurogênica. Na mesma ocasião, foi constatada a presença de agenesia parcial do sacro. A avaliação pela tomografia computadorizada e ressonância nuclear magnética de coluna identificou presença de fístula coincidente com a fosseta da transição lombo-sacral, observada ao exame físico; amputação da porção inferior da medula, com diminuição do número de raízes nervosas da cauda equina e massa pré-sacral de aspecto lipomatoso. Esta foi confirmada durante a cirurgia de correção do ânus imperfurado. A criança não apresentava outras dismorfias e a avaliação radiológica dos pais não identificou anormalidades sacrais. COMENTÁRIOS: A síndrome de Currarino é uma doença genética autossômica, dominante e rara caracterizada pela tríade formada por atresia anal, agenesia parcial do sacro e tumoração pré-sacral. Inclui teratomas, meningoceles, cistos entéricos e lipomas, como observado em nossa paciente. Crianças apresentando anormalidades anorretais deveriam ser sempre cuidadosamente avaliadas quanto à presença da síndrome de Currarino. A agenesia parcial do sacro é um forte indicativo da doença.
OBJECTIVE: To report a patient with Currarino syndrome diagnosed after evaluation for recurrent urinary infections. CASE DESCRIPTION: This is a Caucasian two-year-old girl, the only daughter of healthy unrelated parents with no family history of congenital defects. The patient was born with imperforate anus and recto-vestibular fistula diagnosed in the first day after birth. At seven months of age, she started to present episodes of recurrent urinary infections and received a diagnosis of neurogenic bladder. At the same time, partial sacral agenesis was noted. Magnetic resonance imaging and computed tomography scan of the spine identified the presence of a fistula coincident with the lombo-sacral dimple described at clinical examination, amputation of the lower portion of the spinal cord with reduced number of nervous roots of the caudus equinus and lipomatous presacral mass. The patient did not present other dysmorphia. Parental radiologic evaluation did not identify sacral abnormalities. COMMENTS: Currarino syndrome is a rare autosomal dominant genetic disease characterized by the triad composed of anal atresia, partial sacral agenesis and presacral tumor. It includes, among others, teratomas, meningoceles, enteric cysts and lipomas, as observed in our patient. Children presenting anorectal abnormalities should be evaluated regarding the presence of Currarino syndrome. The partial sacral agenesis is a major sign of this disease.
Assuntos
Humanos , Feminino , Pré-Escolar , Anus Imperfurado , Doenças da Medula Espinal/congênito , Genética , Lipoma , Sacro/anormalidadesRESUMO
PURPOSE: To study the ganglion cells (GC) in the terminal bowel of rats with ethylenethiourea (ETU) induced anorectal malformations (ARM). METHODS: The animals were divided into three groups: Group A - normal fetuses from pregnant rats that were not administered ETU; Group B - fetuses without ARM born from pregnant rats that were administered ETU and Group C - fetuses with ARM born from pregnant rats that received ETU. ETU was administered on the 11th day of pregnancy at the dose of 125 mg/kg body weight by gastric gavage. The rats had cesarean section on the 21st day of gestation. The fetuses terminal bowel tissue was analyzed by immunohistochemistry to demonstrate ganglion cells. RESULTS: Statistically significant differences were found between groups A, B and C regarding ganglion cell densities. Group A had the highest cell density, followed by Group B and the lowest density was found in Group C. CONCLUSION: Ganglion cell densities are decreased in the terminal bowel of rats with ARM.
OBJETIVO: Estudar as células ganglionares (CG) no intestino terminal de ratos portadores de anomalia anorretal (AAR) induzida pela etilenotiouréia (ETU). MÉTODOS: Os animais foram distribuídos em três grupos: Grupo A - fetos normais, obtidos de ratas grávidas às quais não foi administrada ETU; Grupo B - fetos não portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU e Grupo C - fetos portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU. A ETU foi administrada no décimo primeiro dia de gestação na dose de 125 mg/Kg, por gavagem. As ratas foram submetidas à laparotomia e histerotomia para retirada dos fetos no vigésimo primeiro dia de gestação. O intestino terminal dos fetos foi retirado e analisado por imunohistoquímica para pesquisa de CG. RESULTADOS: Foram encontradas diferenças estatisticamente significantes entre os grupos A, B e C quanto à densidade de CG. O grupo A apresentou a maior densidade, seguida pelo grupo B, e a menor densidade foi encontrada no Grupo C. CONCLUSÃO: Existe uma menor densidade de CG no intestino terminal de ratos portadores de AAR.