総排泄腔外反症

The study of cloacal exstrophy has traditionally relied on detailed anatomical observations derived from clinical practice. In the 1980s, a collaborative review of 34 cloacal exstrophy cases led to the development of a novel grid-based system that transformed descriptive anatomy into a structured framework for phenotypic classification and revealed important relationships between bowel, bladder, and genital development. Nearly four decades later, this unique archival collection was rediscovered and recognized as a valuable resource for modern translational investigation. A pivotal interaction between pediatric urologists at an American Academy of Pediatric Urologists (AAPU) meeting led to the formation of the Cloacal Interest Group, bringing together clinicians, developmental biologists, geneticists, pathologists, embryologists, and comparative bioscientists. By integrating historical clinical observations with advances in developmental biology, genetics, imaging, and tissue analysis, the group expanded its focus from cloacal exstrophy to the broader spectrum of cloacal malformations. Key accomplishments include the development of a standardized anatomical biopsy map, reproducible tissue-sampling coordinates, and a shared anatomical framework linking human specimens with experimental developmental models. This narrative highlights how historical clinical archives, interdisciplinary collaboration, and generational exchange can transform descriptive anatomy into a platform for mechanistic investigation and future discoveries in cloacal development and malformations.

PURPOSE: This study evaluates a 27-year single-center experience with continent catheterisable channels (CCC) to identify factors influencing long-term outcomes. METHODS: Retrospective review (1998-2025) conducted on patients undergoing CCC placement. Data points analysed included primary diagnosis, surgical indication, conduit type, stoma location, and postoperative complications. RESULTS: The study included 175 children (99 males) with a total of 178 CCC procedures performed. Primary diagnoses included neuropathic bladder (53%), exstrophy-epispadias complex (21%), complex uropathy (12%), cloacal malformations (7%), and posterior urethral valves (7%). Median age at surgery was 11.3 years (IQR 7.8-14.7). Indications for CCC were concomitant bladder-outlet or reconstructive surgery (46%), difficult urethral catheterization (27%), desire for improved autonomy (21%), and redo surgery (3%). Conduits utilised were appendix (78%), ileum-Casale (9.6%), ileum-Monti (8.4%), and other - sigmoid, vesical flap, ureter (4%). Stoma sites included the right iliac fossa (51%), umbilicus (42%), and other locations (7%). At a median follow-up of 9 years (IQR 4-12), 97% of children maintained channel utility. Complications occurred in 28% of children (n = 48), totalling 70 events: superficial stenosis (9%), suprafascial obstruction (10.7%), subfascial obstruction (7.3%), stomal incontinence (6.2%), and complete channel loss (6.2%). The use of the appendix was associated with lower complication rates (p = 0.03). Stoma location did not significantly impact complication rates. CONCLUSIONS: Continent catheterisable channels provides durable long-term benefits with high patient utilisation rates. Use of the appendix as a conduit is associated with superior outcomes and fewer complications. Stoma location does not significantly impact complication rates; therefore, site selection should be individualized.

BACKGROUND/PURPOSE: Vaginal anomalies frequently accompany anorectal malformations (ARMs) in females, yet management strategies remain poorly standardized. This study presents our 17-year single-center experience with vaginal reconstruction in ARM patients with documented Müllerian and/or vaginal anomalies, focusing on surgical decision-making, technique selection, and outcomes. METHODS: This study was conducted retrospectively on all children with ARMs who had documented Müllerian and/or vaginal anomalies who underwent vaginal reconstruction at our tertiary referral center between January 2004 and January 2021. Patient demographics, ARM types, vaginal anomaly types, associated anomalies, surgical approaches, vaginal reconstruction techniques, complications, and long-term outcomes were analyzed. Categorical variables were compared using Fisher's exact test. RESULTS: Eighteen patients underwent vaginal reconstruction: 11 (61%) had persistent cloaca (PC), 6 (33%) had rectovestibular fistula with anal atresia (RVFAA), and 1 (6%) had cloacal exstrophy. Eleven patients (61%) had duplicated vaginas; distal vaginal agenesis was present in 6 (33%). Associated anomalies were highly prevalent: vertebral (72%), gastrointestinal (39%), urinary (39%), cardiac (27%), and VATER/VACTERL association (22%). Mean age at definitive surgery was 2.50 ± 1.53 years. Vaginal reconstruction methods included introitoplasty (28%), vaginal septum excision (33%), and vaginal replacement using bowel segments and/or rectovestibular fistula tissue (33%). Mean achieved vaginal length was 60.56 ± 13.16 mm. Complications occurred in 44% of patients, predominantly wound dehiscence (33%) and fistula formation (28%). Fistula formation was significantly associated with prior wound dehiscence (p < 0.001). Mean follow-up was 7.18 ± 3.66 years (range 2.3-14.3 years). CONCLUSIONS: Vaginal anomalies in ARMs require individualized reconstruction approaches. No single technique is universally applicable. The surgical algorithm should prioritize maximal native vaginal tissue use, appropriate replacement tissue selection when needed, protective colostomy for complex cases, and long-term follow-up through puberty.

BACKGROUND: Cloacal exstrophy (CE) is among the most complex congenital anomalies, involving multiple organ systems and requiring multidisciplinary care. While surgical and clinical advances have been significant, no comprehensive analysis of research trends, collaboration, and thematic evolution exists. Bibliometric analysis can map the scientific landscape, highlighting key contributors, gaps, and emerging directions. OBJECTIVE: The objective of this study was to conduct a bibliometric and scientometric assessment of cloacal exstrophy research, evaluating publication trends, authorship, institutional productivity, collaborations, and thematic evolution from 1959 to 2025. MATERIALS AND METHODS: A systematic bibliometric analysis of the Scopus database (August 2025) was performed. Data were analyzed using Scopus tools, VOSviewer (v1.6.20) for visualization, and Bibliometrix (v4.1.2) for indicators. Metrics included publication output, co-authorship networks, institutional and international collaborations, keyword co-occurrence, and citation analysis. RESULTS: A total of 289 publications were identified between 1959 and 2025, with a peak in 2011 (15). Original articles comprised 75%. The USA led output (162, 56%), with Johns Hopkins institutions contributing most (176). Gearhart was the most prolific author (46, h-index 14). The Journal of Urology and Journal of Pediatric Surgery were the main publication outlets. Thematic evolution progressed from descriptive studies to surgical outcomes, prenatal diagnosis, and refinements. The most cited work addressed gender identity considerations. CONCLUSIONS: CE research is concentrated in specialized US centers, showing thematic shifts aligned with advances in fetal medicine and surgery. The observed bibliometric patterns suggest a relatively established research structure within the field. Future efforts should strengthen international collaboration and address adult outcomes and novel therapeutic strategies.

PURPOSE: Worldwide, pull through is uncommon in patients with cloacal exstrophy due to heterogeneous outcomes, however it is frequently performed at our center. We characterized this population and their longitudinal outcomes. METHODS: A review of a prospectively maintained database (1981-present) of patients with cloacal exstrophy was conducted, noting demographics, associated anomalies, surgical history, and outcomes at most recent follow up. RESULTS: There were 91 patients with cloacal exstrophy (67 classic, 24 covered). Pull through, offered based on trial of bowel management through the stoma, was performed in 58 patients (63.7%) at median age 2.46 years (IQR 1.44, 5.08). The most frequent reasons to not undergo pull through were failed stoma bowel management (39.4%) and patient/family preference (33.3%). Outcomes, assessed at median 4.84 years post pull through, were reported in 40/58 patients, among which 36 were clean for stool or continent and 4 patients underwent reversal. CONCLUSION: With preservation of colon and incorporation into the gastrointestinal tract at initial operation, followed by successful bowel management through the stoma, a pull through was performed in 63.7% of patients. Candidacy for pull through should be assessed, ideally prior to, or concurrent with, bladder reconstruction.