Urinary Tract Anomalies in Patients With Anorectal Malformations: The Role of Screening and Clinical Follow-Up

Duci, Miriam; Midrio, Paola; Castagnetti, Marco; Gamba, Piergiorgio; Faggin, Roberto; Fascetti-Leon, Francesco

doi:10.1016/j.urology.2020.05.052

Cited by 13 publications

(10 citation statements)

References 24 publications

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“…pVACTERL cases showing a 12% rate of NB. It is possible that this frequency variation is related to the malformation's complexity, as suggested by Duci et al (2020). However, our study did not aim to analyze whether the occurrence of NB is influenced by the complexity of the other VACTERL features.…”

Section: Discussionmentioning

confidence: 94%

“…Within the VACTERL cases, we found a 20% prevalence of NB. Duci et al (2020) found a prevalence of NB of 20% in patients with complex cases of anal defects (cases of cloaca, cloacal exstrophy, urethral and bladder fistulas, and vaginal fistulas) and an overall prevalence of 12% of NB associated with any ARM. Goossens et al (2011) also showed an incidence of 12% of urinary incontinence in patients with ARMs.…”

Section: Discussionmentioning

confidence: 99%

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Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

Gomes,

Zapata,

Galarreta

et al. 2023

American J of Med Genetics Pt A

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VACTERL association is defined as the nonrandom co‐occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

Gomes,

Zapata,

Galarreta

et al. 2023

American J of Med Genetics Pt A

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“…Most of the urological abnormalities associated with complex ARMs can be detected with a neonatal ultrasound. Duci et al (10) evaluated the efficacy of the early detection and found that the screening program can diagnose 88% of urinary disorders. Goossens et al (5) in their evaluation of urological pathology screening methods in patients with ARM, concluded that an ultrasound of the urinary tract should be performed in all patients.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, Duci also evaluated the efficacy of clinical follow-up, and their study suggests that monitoring can find 12% of the total. (10) This emphasizes the need for appropriate longterm follow-up in these patients.…”

Section: Discussionmentioning

confidence: 99%

Renal outcome in patients with complex anorectal malformations

et al. 2022

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Introducción: Las malformaciones anorrectales son una de las malformaciones congénitas más frecuentes en cirugía pediátrica. Su incidencia estimada oscila entre 1 en 2000 y 1 en 5000 recién nacidos vivos aproximadamente. El objetivo del trabajo es presentar las anomalías urinarias asociadas y los resultados renales funcionales en pacientes con malformaciones anorrectales de peor pronóstico atendidos en nuestro servicio. Material y métodos: Se realizó una revisión retrospectiva de los pacientes intervenidos en nuestro centro con malformaciones anorrectales complejas, incluyendo alteraciones urológicas y seguimiento renal a largo plazo. Los datos recogidos incluían el tipo de anomalía urinaria, clasificada como alta o baja, la función renal (tasa de filtración glomerular y nivel de creatinina en sangre), la presencia de insuficiencia renal crónica (ERC), la necesidad de cirugía para corregir la anomalía urinaria, la necesidad de trasplante renal y complicaciones y resultados a largo plazo. Resultados: Se incluyeron un total de 55 pacientes, 32 niñas y 23 niños. La edad media en el momento de la cirugía fue de 9 meses (DE 2,18). El seguimiento medio de los pacientes fue de 13 años (DE 7,01). El 69% de los pacientes presentó alguna anomalía urológica, siendo más frecuente en el grupo cloacal. Se encontraron anomalías estructurales renales en 22 (40%) de 55 pacientes. Se identificaron en 11 (47%) pacientes cloacales, siendo la displasia renal la más frecuente (n=7; 32%), seguida de las anomalías de posición en 3. En cuanto a las anomalías del tracto urinario inferior, se describió en 32 (58%). pacientes En el grupo cloacal la incidencia fue del 65%, siendo el reflujo vesicoureteral el más frecuente (n = 14, 60%) así como en el grupo de pacientes con fístula a la uretra prostática y en el grupo con extrofias de la cloaca ( n = 3, 42%). Respecto al resto de anomalías del tracto urinario inferior, la incidencia general de anomalías anatómicas vesicales (divertículo vesical, uraco permeable) fue del 15%. Como patología relacionada con el tracto urinario superior: megauréter obstructivo primario 5%, ureterocele 1% y válvulas de uretra posterior 1%. Conclusiones: Los pacientes con malformaciones anorrectales complejas tienen un riesgo importante de insuficiencia renal. El cribado adecuado, alto nivel de sospecha, tratamiento y seguimiento a largo plazo de cualquier anomalía urinaria asociada en pacientes con malformaciones anorrectales complejas es fundamental para preservar la función renal y prevenir la ERC. La atención por un equipo multidisciplinario y la transición adecuada a la edad adulta son fundamentales para optimizar el manejo médico de los pacientes y los resultados a largo plazo.

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“…Patients with ARM have a wide variety of urological abnormalities, often with increasing incidence as the severity of the ARM increases. 5 , 6 Urological involvement in the care of all children with ARM is critical, as chronic kidney disease (CKD) and end stage renal disease (ESRD) are the most likely cause of decreased life expectancy in this population. 7 If ARM patients are found to have associated spinal anomalies, urology must be involved for management of potential neurogenic bladder (NGB), regardless of the involvement of the urinary system in the malformation itself.…”

Section: Introductionmentioning

confidence: 99%

Management of the urological tract in children with anorectal malformations – a contemporary review

Harris

Wilcox

2023

Therapeutic Advances in Urology

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Anorectal malformations (ARMs) consist of a broad spectrum of congenital anomalies that are associated with an equally wide variety of urological abnormalities, often with increasing incidence as the severity of the ARM increases. The importance of urologic involvement in the care of ARM patients has been noted for decades and is critical from birth to adulthood. Urology must be involved in the initial evaluation and operative care of the child as well as in monitoring and managing issues such as neurogenic bladder, renal disease, and eventually sexual function and fertility. Care of the ARM patient must be done through a multidisciplinary lens, with the urologist as a key player. This review will serve as an update on the management of the urologic tract in children with ARM.

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Urinary Tract Anomalies in Patients With Anorectal Malformations: The Role of Screening and Clinical Follow-Up

Cited by 13 publications

References 24 publications

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

Renal outcome in patients with complex anorectal malformations

Management of the urological tract in children with anorectal malformations – a contemporary review

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