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诊断与治疗综述:经后矢状入路治疗的持续性泄殖腔畸形并获得正常功能结局

A Review of Diagnosis and Management: Persistent Cloaca Treated by a Posterior Sagittal Approach With a Normal Functional Outcome.

作者信息

Wael Muhannad, Abuarafeh Wael M, Lubbad Mohammed A, Almansour Sara, Ghannam Mohammad

机构信息

Medicine, An Najah National University, Jerusalem, PSE.

Urology, Saint Joseph Hospital, Jerusalem, PSE.

出版信息

Cureus. 2022 Apr 1;14(4):e23737. doi: 10.7759/cureus.23737. eCollection 2022 Apr.

DOI:10.7759/cureus.23737
PMID:35509764
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9057449/
Abstract

Cloacal malformation (CM) is a severe, complex, and extremely rare category of anorectal and urogenital tract malformations. Prenatal diagnosis is illusory and vague; therefore, magnetic resonance imaging (MRI) is the most effective test point toward an accurate diagnosis. Thus, careful investigation and evaluation are mandatory since they could be associated with syndromes and other anomalies, including urogenital tract, vertebral, and cord abnormalities. Despite the severity and complexity of the deformity, CM cases are curable, not desperate, and can have an excellent prognosis with great surgical correction. However, managing persistent cloaca necessitates a careful assessment because corrective surgeries require inclusive surgical planning, multidisciplinary, expert, and highly specialized medical center. In surgically repaired malformations, fecal and urinary incontinence has been a major issue, which was resolved when Dr. Pena Alberto suggested safer dissection and less harmful techniques for neurovascular structures and great functional corrected anomaly to ensure fertility and less incontinence. For improved results and prognosis on quality of life, patients should be scheduled for extended bowel training along with the clinical evaluation follow-up. In this article, we present a case successfully treated with the posterior sagittal approach, Pena operation, and anorecto-vagino-urethroplasty with feminizing clitoroplasty and highlight the value and impact of prenatal evaluation, diagnosis, and management. The rarity of the case and excellent results, including fair to normal bowel and urinary control, prompted us to report it and assert the significance of assessment, surgical management and technique, challenges, postoperative bowel training, and clinical investigation and examination.

摘要

泄殖腔畸形(CM)是一种严重、复杂且极为罕见的肛门直肠和泌尿生殖道畸形。产前诊断不明确且模糊;因此,磁共振成像(MRI)是实现准确诊断的最有效检查手段。因此,必须进行仔细的检查和评估,因为它们可能与综合征及其他异常情况相关,包括泌尿生殖道、脊柱和脊髓异常。尽管畸形严重且复杂,但CM病例是可治愈的,并非毫无希望,通过出色的手术矫正可获得良好的预后。然而,处理持续性泄殖腔需要仔细评估,因为矫正手术需要全面的手术规划、多学科、专家级且高度专业化的医疗中心。在手术修复的畸形中,大便和小便失禁一直是主要问题,当佩纳·阿尔韦托医生提出对神经血管结构采用更安全的解剖方法和危害较小的技术,并对功能进行良好的矫正以确保生育能力并减少失禁时,这一问题得到了解决。为了改善生活质量的结果和预后,患者应在临床评估随访的同时安排进行长期的肠道训练。在本文中,我们介绍了一例采用后矢状入路、佩纳手术以及肛门 - 阴道 - 尿道成形术并进行女性化阴蒂成形术成功治疗的病例,并强调了产前评估、诊断和管理的价值及影响。该病例的罕见性以及出色的结果,包括良好至正常的排便和排尿控制,促使我们进行报告,并强调评估、手术管理和技术、挑战、术后肠道训练以及临床检查的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/5249e4a05dd1/cureus-0014-00000023737-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/91ac7be893c6/cureus-0014-00000023737-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/878d216079e2/cureus-0014-00000023737-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/b591b1724fd1/cureus-0014-00000023737-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/5249e4a05dd1/cureus-0014-00000023737-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/91ac7be893c6/cureus-0014-00000023737-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/878d216079e2/cureus-0014-00000023737-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/b591b1724fd1/cureus-0014-00000023737-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df1c/9057449/5249e4a05dd1/cureus-0014-00000023737-i04.jpg

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本文引用的文献

1
Cloacal malformation: A rare case report and review of prenatal imagings.泄殖腔畸形:一例罕见病例报告及产前影像学回顾
Medicine (Baltimore). 2020 Oct 16;99(42):e21839. doi: 10.1097/MD.0000000000021839.
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The development of the cloaca in the human embryo.人类胚胎泄殖腔的发育。
J Anat. 2018 Dec;233(6):724-739. doi: 10.1111/joa.12882. Epub 2018 Oct 7.
3
Fecal Incontinence after Posterior Sagittal Anorectoplasty for Anorectal Malformation: A Single-Center Study.直肠肛门畸形经后矢状入路直肠肛门成形术后的大便失禁:一项单中心研究
Scientifica (Cairo). 2018 May 30;2018:8297617. doi: 10.1155/2018/8297617. eCollection 2018.
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Fecal Incontinence after Posterior Sagittal Anorectoplasty - Follow up of 2 years.后矢状入路肛门直肠成形术后大便失禁——2年随访
Med J Armed Forces India. 2003 Jul;59(3):194-6. doi: 10.1016/S0377-1237(03)80004-7. Epub 2011 Jul 21.
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Persistent cloaca: a 10-year review of prenatal diagnosis.持续性肛门闭锁:10 年产前诊断回顾。
J Ultrasound Med. 2012 Mar;31(3):403-7. doi: 10.7863/jum.2012.31.3.403.
6
Hydrocolpos in cloacal malformations.直肠生殖畸形中的积水性阴道。
J Pediatr Surg. 2010 Jun;45(6):1241-5. doi: 10.1016/j.jpedsurg.2010.02.097.
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Cloacal malformations: lessons learned from 490 cases.泄殖腔畸形:从490例病例中吸取的经验教训。
Semin Pediatr Surg. 2010 May;19(2):128-38. doi: 10.1053/j.sempedsurg.2009.11.012.
8
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.持续性泄殖腔及相关肾脏畸形中UPIIIA、SHH、EFNB2和HNF1β的突变分析
J Pediatr Urol. 2007 Feb;3(1):2-9. doi: 10.1016/j.jpurol.2006.03.002.
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Surgical reconstruction of cloacal malformation can alter bladder function: a comparative study with anorectal anomalies.泄殖腔畸形的手术重建可改变膀胱功能:与肛门直肠畸形的比较研究。
J Urol. 2004 Dec;172(6 Pt 1):2377-81; discussion 2381. doi: 10.1097/01.ju.0000145201.94571.67.
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The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?6例泄殖腔发育不全序列征的产前诊断:终止妊娠总是首选吗?
Prenat Diagn. 2004 Jan;24(1):10-6. doi: 10.1002/pd.768.