Maruf Mahir, Benz Karl, Jayman John, Kasprenski Matthew, Michaud Jason, Di Carlo Heather N, Gearhart John P
Robert D. Jeffs Division of Pediatric Urology, Charlotte Bloomberg Children's Center, James Buchanan Brady Urological Institute, The Johns Hopkins Medical Institutions, Baltimore, MD.
Robert D. Jeffs Division of Pediatric Urology, Charlotte Bloomberg Children's Center, James Buchanan Brady Urological Institute, The Johns Hopkins Medical Institutions, Baltimore, MD.
Urology. 2019 Mar;125:184-190. doi: 10.1016/j.urology.2018.10.049. Epub 2018 Dec 18.
To investigate the diagnosis, surgical management, and outcomes in patients with variant EEC. Variant presentations of the exstrophy-epispadias complex (EEC) span a wide range of abnormalities. The rarity and diversity of EEC variants can lead to challenges in the diagnosis and subsequent management of this population.
The authors reviewed an institutional database of 1336 EEC patients from 1975 to 2018 for variant presentations of EEC. Variant presentations included those with skin covered bladder exstrophy (BE), duplicate bladders, superior vesical fistula, and epispadias with major bladder prolapse. Surgical management and outcomes were assessed.
In total, 44 EEC variants were identified. Nineteen (43%) presented with a skin-covered BE variant. Five patients presented with duplicate BE, while 6 presented with superior vesical fistula. Fourteen patients (32%) presented with epispadias with major bladder prolapse. Overall, 36 (82%) EEC variants underwent primary bladder closure, at a median of 135 days after birth (range 1-2010), with 21 (58%) undergoing pelvic osteotomy. Primary closures were successful in 89% of cases. Continence procedures were performed in 17 patients. This includes 5 patients who underwent bladder augmentation. However even without a continence procedure, continence with volitional voiding was found in 8 patients.
The most common EEC variant is the skin-covered form of BE. In order to expedite appropriate management, accurate diagnosis upon initial presentation is crucial. Still, successful surgical reconstruction often results in continence that is similar to, or better than, nonvariant EEC presentations.
探讨变异型泄殖腔外翻-尿道上裂综合征（EEC）患者的诊断、手术治疗及预后。泄殖腔外翻-尿道上裂综合征（EEC）的变异表现涵盖广泛的异常情况。EEC变异的罕见性和多样性会给该人群的诊断及后续治疗带来挑战。
作者回顾了1975年至2018年1336例EEC患者的机构数据库，以查找EEC的变异表现。变异表现包括皮肤覆盖型膀胱外翻（BE）、重复膀胱、高位膀胱瘘以及伴有严重膀胱脱垂的尿道上裂。评估手术治疗及预后情况。
共识别出44例EEC变异。19例（43%）表现为皮肤覆盖型BE变异。5例患者为重复膀胱，6例为高位膀胱瘘。14例患者（32%）表现为伴有严重膀胱脱垂的尿道上裂。总体而言，36例（82%）EEC变异患者接受了一期膀胱闭合手术，中位时间为出生后135天（范围1 - 2010天），其中21例（58%）接受了骨盆截骨术。一期闭合手术89%成功。17例患者接受了控尿手术。其中5例患者接受了膀胱扩大术。然而，即使未进行控尿手术，仍有8例患者可自主排尿并实现控尿。
最常见的EEC变异是皮肤覆盖型BE。为加快恰当治疗，初次就诊时准确诊断至关重要。即便如此，成功的手术重建通常能使控尿情况与非变异型EEC表现相似或更佳。
