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Journal of Pediatric Urology Apr 2024Anorectal malformations (ARM) are rare congenital anomalies characterized by a spectrum of defects resulting in the absence of a normal anal opening with or without... (Review)
Review
Anorectal malformations (ARM) are rare congenital anomalies characterized by a spectrum of defects resulting in the absence of a normal anal opening with or without fistula. Urogenital involvement is common, and the fistulous tract may terminate in the genitourinary system in males or within gynecological structures in females. Surgical reconstruction occurs early in life and survival of these patients to adulthood is the norm. There has, therefore, been increased focus on their long-term outcomes to better anticipate and treat the sequelae that may impact their health and well-being as this population ages. For urologists, urinary health, sexual function, and fertility outcomes are of particular interest among this population. This article aims to provide a review of urological, sexual, and fertility outcomes for individuals born with ARM with a focus on key issues that may occur later in life to ensure adequate counseling, screening, and treatment.
Topics: Male; Adult; Female; Humans; Anorectal Malformations; Anal Canal; Urogenital System
PubMed: 38184446
DOI: 10.1016/j.jpurol.2023.12.015 -
Birth Defects Research Feb 2023We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a...
We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.
Topics: Pregnancy; Female; Humans; Child; Prevalence; Anorectal Malformations; Retrospective Studies; Stillbirth; Parturition
PubMed: 36401554
DOI: 10.1002/bdr2.2129 -
Pediatric Surgery International Aug 2022Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized... (Review)
Review
Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized to evaluate bowel function in these children. We aimed to describe the reported protocols and manometric findings in children with ARM post-reconstructive surgery and to investigate the correlation between manometric evaluation and bowel functional outcome. PubMed, EMBASE, and Google Scholar databases were searched from 1980 to 2021. Data were reviewed and extracted independently by two authors, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Included studies were English articles reporting postoperative assessment of children (≤ 18 years) with ARM using anorectal manometry. From 128 articles obtained in the initial search, five retrospective cohort studies and one prospective study fulfilled inclusion criteria. The rectoanal inhibitory reflex and mean anal resting pressure were parameters most often reported to correlate with postoperative bowel function. The least reported parameters among the studies were high-pressure zone, rectal volume, and rectal sensation. Anorectal manometry could be an objective method providing important information for personalized management of postoperative ARM patients with bowel function issues, but lack of standardized protocols limits a comprehensive analysis of their utility.
Topics: Anal Canal; Anorectal Malformations; Child; Fecal Incontinence; Humans; Manometry; Prospective Studies; Rectum; Retrospective Studies
PubMed: 35727358
DOI: 10.1007/s00383-022-05152-9 -
Pediatric Surgery International Sep 2019The literature about ectopic ureters in anorectal malformations is limited. Repair of an anorectal malformation may require dissection near the normal or abnormal...
PURPOSE
The literature about ectopic ureters in anorectal malformations is limited. Repair of an anorectal malformation may require dissection near the normal or abnormal insertion of the ureters. Knowledge of the presence and location of ectopic ureters may prevent intraoperative injury. We aim to describe the incidence and location of ectopic ureters in patients with anorectal malformations and to characterize associated renal anomalies.
METHODS
This is an IRB-approved retrospective study of patients with anorectal malformations and ectopic ureters identified in our colorectal database.
RESULTS
Of 2283 patients with anorectal malformation, 79 (3.5%) had ectopic ureter(s). Of those, 29% had bilateral ectopic ureters. Nearly all (87%) of bilateral ectopic ureters occurred in females. Ectopic ureters most commonly inserted into the bladder neck (33%), vagina (15%), or urethra (13%). Renal dysfunction was noted in a high proportion of patients. The majority (59%) of ectopic ureters were associated with dysfunction of the ipsilateral kidney. Interestingly, 29% of patients with unilateral ureteral ectopia had an abnormal contralateral kidney. Only 22 patients (28%) had two normal kidneys, and 5 (6%) had documented renal failure with 2 (2.5%) requiring renal transplant. This compares to a transplant rate of 0.6% among anorectal malformation patients without ectopic ureter.
CONCLUSIONS
The incidence of ectopic ureter is 3.5% among anorectal malformation patients. Cloaca and recto-bladder neck fistula are the types of anorectal malformation with higher incidence. Ureteral ectopia seems to confer an increased risk of renal failure. Identifying ectopic ureters is important for surgical planning and monitoring renal function vigilantly.
Topics: Anorectal Malformations; Child, Preschool; Databases, Factual; Female; Humans; Kidney; Male; Retrospective Studies; Ureter
PubMed: 31278478
DOI: 10.1007/s00383-019-04517-x -
European Journal of Pediatric Surgery :... Apr 2020The use of laparoscopy in the minimally invasive management of anorectal malformations (ARMs) continues to evolve, although the principles guiding the anatomic surgical... (Review)
Review
The use of laparoscopy in the minimally invasive management of anorectal malformations (ARMs) continues to evolve, although the principles guiding the anatomic surgical repair and clinical follow-up remain unchanged. In this review, we detail the advantages, indications, contraindications, complications, and issues unique to the minimally invasive approach to ARM. A comprehensive search of the PubMed and Embase databases was performed (2014-2018). Full-text screening, data abstraction, and quality appraisal were performed of articles describing the use of laparoscopy in ARM and cloaca. While new developments and approaches to ARM utilizing minimally invasive techniques and timing for surgical approach have been detailed, a unique complication profile involving greater risk of rectal prolapse and retention of a remnant of the original fistula are still consistently reported. Analysis of perioperative complications and long-term functional outcomes, including rates of fecal and urinary continence, are lacking. It is clear that patient selection for the choice of surgical approach based on precise preoperative delineation of the anatomy is the key. Adherence to the principles of ARM repair as well as application of operative/imaging adjuncts will yield the best technically safe minimally invasive approach to ARM. Continued efforts for standardized reporting and long-term follow-up are required.
Topics: Anorectal Malformations; Cloaca; Humans; Infant; Infant, Newborn; Laparoscopy; Postoperative Complications; Rectal Fistula
PubMed: 32131133
DOI: 10.1055/s-0040-1701700 -
Journal of Pediatric Surgery Sep 2020To collect data on sexual and fertility issues in adult male patients with history of anorectal malformations (ARM).
PURPOSE
To collect data on sexual and fertility issues in adult male patients with history of anorectal malformations (ARM).
MATERIALS AND METHODS
Thirty adult males born with ARM, cared for at the Pediatric Surgery of Treviso and Padua Hospitals, were enrolled and interviewed about sexual habits and relationships. Testicular ultrasound, evaluation of male sex hormones and semen analysis were performed to assess testicular function and compare data with 15 fertile controls. Presence of erectile dysfunction was evaluated with IIEF-5 questionnaire.
RESULTS
Cryptorchidism and recurrent orchiepididymitis were reported in 33% and 40% of patients, respectively. Average testicular volume resulted significantly lower than fertile controls (11.1 vs 14.3 mL, p = 0.002) and 53.5% presented testicular hypotrophy (<10 mL). Erectile dysfunction was reported by a single patient and ejaculatory anomalies by 46.5%. Thirteen patients were azoospermic/cryptozoospermic; 6 of them presented a reduced peripheral sensitivity to androgens (ASI > 139). Coital debut resulted delayed at 18 years old (vs 15 years in the control group). Overall 63.5% reported their condition did not affect their sexual sphere.
CONCLUSIONS
Evaluation of testicular function is recommended in ARM patients to detect and treat possible infertility disorders, to recognize the clinical conditions which could affect the spermatogenesis since childhood, and to guarantee psychological support.
LEVEL OF EVIDENCE RATING
Prognosis study. Level III (case-control study).
Topics: Adolescent; Adult; Anorectal Malformations; Azoospermia; Humans; Male; Semen Analysis; Sexual Behavior; Testicular Diseases; Testis; Young Adult
PubMed: 32057441
DOI: 10.1016/j.jpedsurg.2019.12.028 -
Rectal Prolapse Following Repair of Anorectal Malformation: Incidence, Risk Factors, and Management.Journal of Pediatric Surgery Aug 2023The incidence and optimal management of rectal prolapse following repair of an anorectal malformation (ARM) has not been well-defined.
BACKGROUND
The incidence and optimal management of rectal prolapse following repair of an anorectal malformation (ARM) has not been well-defined.
METHODS
A retrospective cohort study was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium registry. All children with a history of ARM repair were included. Our primary outcome was rectal prolapse. Secondary outcomes included operative management of prolapse and anoplasty stricture following operative management of prolapse. Univariate analyses were performed to identify patient factors associated with our primary and secondary outcomes. A multivariable logistic regression was developed to assess the association between laparoscopic ARM repair and rectal prolapse.
RESULTS
A total of 1140 patients met inclusion criteria; 163 (14.3%) developed rectal prolapse. On univariate analysis, prolapse was significantly associated with male sex, sacral abnormalities, ARM type, ARM complexity, and laparoscopic ARM repairs (p < 0.001). ARM types with the highest rates of prolapse included rectourethral-prostatic fistula (29.2%), rectovesical/bladder neck fistula (28.8%), and cloaca (25.0%). Of those who developed prolapse, 110 (67.5%) underwent operative management. Anoplasty strictures developed in 27 (24.5%) patients after prolapse repair. After controlling for ARM type and hospital, laparoscopic ARM repair was not significantly associated with prolapse (adjusted odds ratio (95% CI): 1.50 (0.84, 2.66), p = 0.17).
CONCLUSION
Rectal prolapse develops in a significant subset of patients following ARM repair. Risk factors for prolapse include male sex, complex ARM type, and sacral abnormalities. Further research investigating the indications for operative management of prolapse and operative techniques for prolapse repair are needed to define optimal treatment.
TYPE OF STUDY
Retrospective cohort study.
LEVEL OF EVIDENCE
II.
Topics: Child; Humans; Male; Anorectal Malformations; Rectal Prolapse; Retrospective Studies; Incidence; Rectal Fistula; Urinary Fistula; Urethral Diseases; Risk Factors; Rectum
PubMed: 37173214
DOI: 10.1016/j.jpedsurg.2023.04.010 -
Evaluation and management of rectovaginal fistula in anorectal malformation: an observational study.Pediatric Surgery International Nov 2021The rectovaginal fistula (RVF) is a type of female ARM in which the rectum terminates in the vagina. Due to its rarity, there are limited reports on its presentation,... (Observational Study)
Observational Study
PURPOSE
The rectovaginal fistula (RVF) is a type of female ARM in which the rectum terminates in the vagina. Due to its rarity, there are limited reports on its presentation, management, and follow-up. This paper deals with the clinical presentation, management, and outcome of RVF.
METHODS
It was a retrospective cohort study of 10 years. The patients were evaluated for age, clinical presentation, associated anomalies, any prior surgical interventions performed elsewhere, and complications. After workup, the patients underwent three stages of surgery.
RESULTS
Fifty-six patients of RVF were managed. The median age was 13.48 months. The associated anomalies were present in 37 (66%) patients. Posterosagittal and anterosagittal anorectoplasty (PSARP and ASARP) were performed in 29 and 6 patients, respectively. Abdominoperineal pull-through (APPT) was performed in 16 patients of congenital pouch colon. The complications of the first stage included stomal stenosis (4) and stomal prolapse (3). Constipation was present in 39 patients 2 years after the third surgery.
CONCLUSIONS
RVF is a distinct entity, which needs careful clinical examination. With proper planning for diagnosis and treatment, it can be managed at specialized centers. Care may be needed for the associated anomalies. The follow-up is an integral part of its management.
Topics: Anal Canal; Anorectal Malformations; Female; Humans; Infant; Rectal Fistula; Rectovaginal Fistula; Rectum; Retrospective Studies; Treatment Outcome
PubMed: 34286379
DOI: 10.1007/s00383-021-04970-7 -
Children (Basel, Switzerland) May 2023Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to... (Review)
Review
Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to a bowel management program. We aim to report the recent updates in evaluating and managing these patients as part of the manuscript series on the current bowel management protocols for patients with colorectal diseases (ARMs, Hirschsprung disease, functional constipation, and spinal anomalies). The unique anatomic features of ARM patients, such as maldeveloped sphincter complex, impaired anal sensation, and associated spine and sacrum anomalies, indicate their bowel management plan. The evaluation includes an examination under anesthesia and a contrast study to exclude anatomic causes of poor bowel function. The potential for bowel control is discussed with the families based on the ARM index calculated from the quality of the spine and sacrum. The bowel management options include laxatives, rectal enemas, transanal irrigations, and antegrade continence enemas. In ARM patients, stool softeners should be avoided as they can worsen soiling.
PubMed: 37238394
DOI: 10.3390/children10050846 -
African Journal of Paediatric Surgery :... Jan 2024Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an...
Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an abnormal urethral opening on the ventral aspect of the penis with well-formed distal urethra and meatus at the tip of the glans. The treatment is individualised according to the site of the fistula, associated anomalies and condition of the distal urethra. The principles of hypospadias surgery should be strictly followed.
Topics: Male; Humans; Hypospadias; Anorectal Malformations; Urethra
PubMed: 38259026
DOI: 10.4103/ajps.ajps_97_22