Chen Yajun.Twodecades of diagnosis and treatment of anorectal malformations in children: a paradigm shift from anatomical reconstruction to functional rehabilitation[J].Journal of Clinical Pediatric Surgery,2025,(08):701-705.[doi:10.3760/cma.j.cn101785-202507043-001]
儿童肛门直肠畸形诊疗20年：从解剖重建到多维度功能康复的范式转变
- Title:
- Twodecades of diagnosis and treatment of anorectal malformations in children: a paradigm shift from anatomical reconstruction to functional rehabilitation
- Keywords:
- Anorectal Malformations; Diagnosis; Surgical Procedures; Operative; Anatomical Reconstruction; Functional Rehabilitation; Child
- 摘要:
- 先天性肛门直肠畸形是儿童常见的消化道畸形，其诊疗策略直接影响到患儿的远期预后。近20年来，随着微创技术的发展、胚胎发育研究的深入以及功能评估体系的完善，先天性肛门直肠畸形诊疗的核心理念已从解剖结构重建逐步转向多维度功能康复。本文拟基于先天性肛门直肠畸形手术方式的演变以及预后评估体系的发展，系统阐述先天性肛门直肠畸形诊疗模式的转变与意义。
- Abstract:
- Congenital anorectal malformations are common gastrointestinal anomalies in children,and the strategies used for their diagnosis and treatment directly influence long-term outcomes.Over the past two decades,with the advancement of minimally invasive techniques,deeper understanding of embryonic development,and the refinement of functional assessment systems,the core concept in managing congenital anorectal malformations has shifted from solely anatomical reconstruction toward comprehensive functional rehabilitation.This article systematically elaborates on the transformation and significance of treatment paradigms for congenital anorectal malformations,based on the evolution of surgical techniques and the development of prognostic evaluation systems.
参考文献/References:
[1] Hageman IC,Midrio P,van der Steeg HJJ,et al.The European anorectal malformation network (ARM-Net) patient registry:10-year review of clinical and surgical characteristics[J].Br J Surg,2024,111(2):znae019.DOI:10.1093/bjs/znae019.
[2] Levitt MA,Kant A,Pe?a A.The morbidity of constipation in patients with anorectal malformations[J].J Pediatr Surg,2010,45(6):1228-1233.DOI:10.1016/j.jpedsurg.2010.02.096.
[3] Danielson J,Karlbom U,Graf W,et al.Persistent fecal incontinence into adulthood after repair of anorectal malformations[J].Int J Colorectal Dis,2019,34(3):551-554.DOI:10.1007/s00384-018-3220-6.
[4] Hassan L,Rosenberg CBM,Cortenraad SAM,et al.Anorectal malformation and outcome review (ARMOUR) project:a systematic review for the outcomes reported in patients with an anorectal malformation[J].BMJ Paediatr Open,2025,9(1):e003192.DOI:10.1136/bmjpo-2024-003192.
[5] 白玉作.肛门直肠畸形治疗中值得关注的若干问题[J].中华小儿外科杂志，2023，44（8）：673-675.DOI:10.3760/cma.j.cn421158-20230710-00325. Bai YZ.Several noteworthy issues in the treatment of anorectal malformations[J].Chin J Pediatr Surg,2023,44(8):673-675.DOI:10.3760/cma.j.cn421158-20230710-00325.
[6] Levitt MA,Pe?a A.Anorectal malformations[J].Orphanet J Rare Dis,2007,2:33.DOI:10.1186/1750-1172-2-33.
[7] Stephens FD.Malformations of the anus[J].Aust N Z J Surg,1953,23(1):9-24.DOI:10.1111/j.1445-2197.1953.tb05012.x.
[8] Pe?a A,Devries PA.Posterior sagittal anorectoplasty:important technical considerations and new applications[J].J Pediatr Surg,1982,17(6):796-811.DOI:10.1016/s0022-3468(82)80448-x.
[9] 张金哲.小儿肛肠疾病治疗进展[J].临床小儿外科杂志，2007，6（2）：1-2.DOI:10.3969/j.issn.1671-6353.2007.02.001. Zhang JZ.Progress in the treatment of pediatric anorectal diseases[J].J Clin Ped Sur,2007,6(2):1-2.DOI:10.3969/j.issn.1671-6353.2007.02.001.
[10] Georgeson KE,Inge TH,Albanese CT.Laparoscopically assisted anorectal pull-through for high imperforate anus-A new technique[J].J Pediatr Surg,2000,35(6):927-931.DOI:10.1053/jpsu.2000.6925.
[11] 王维林.重视复杂肛门直肠畸形的综合治疗[J].临床小儿外科杂志，2020，19（10）：861-865.DOI:10.3969/j.issn.1671-6353.2020.10.001. Wang WL.Attaching a higher importance to a comprehensive management of children with complicated anorectal malformatons[J].J Clin Ped Sur,2020,19(10):861-865.DOI:10.3969/j.issn.1671-6353.2020.10.001.
[12] AlBassam A,Gado A,Mallick MS,et al.Robotic-assisted anorectal pull-through for anorectal malformations[J].J Pediatr Surg,2011,46(9):1794-1797.DOI:10.1016/j.jpedsurg.2011.04.019.
[13] Chang XP,Cao GQ,Pu JR,et al.Robot-assisted anorectal pull-through for anorectal malformations with rectourethral and rectovesical fistula:feasibility and short-term outcome[J].Surg Endosc,2022,36(3):1910-1915.DOI:10.1007/s00464-021-08473-3.
[14] 汤绍涛，张梦欣，池水清.肛门直肠畸形外科治疗前沿：机器人手术现状及未来趋势[J].临床小儿外科杂志，2022，21（11）：1001-1005.DOI:10.3760/cma.j.cn101785-202210006-001. Tang ST,Zhang MX,Chi SQ.Frontiers in surgical treatment of anorectal malformations:current status and future trend of robotic-assisted surgery[J].J Clin Ped Sur,2022,21(11):1001-1005.DOI:10.3760/cma.j.cn101785-202210006-001.
[15] Stephens FD,Smith ED.Classification,identification,and assessment of surgical treatment of anorectal anomalies[J].Pediatr Surg Int,1986,1(4):200-205.DOI:10.1007/BF00177146.
[16] Holschneider A,Hutson J,Pe?a A,et al.Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations[J].J Pediatr Surg,2005,40(10):1521-1526.DOI:10.1016/j.jpedsurg.2005.08.002.
[17] Smith CA,Rialon KL,Kawaguchi A,et al.Classification and surgical management of anorectal malformations:a systematic review and evidence-based guideline from the APSA outcomes and evidence-based practice committee[J].J Pediatr Surg,2024,59(10):161598.DOI:10.1016/j.jpedsurg.2024.06.007.
[18] 刘雪来，叶茂，张奇，等.人胚胎早期肛门直肠周围三肌管发育的组织学研究[J].中华小儿外科杂志，2024，45（11）：1018-1023.DOI:10.3760/cma.j.cn421158-20240116-00033. Liu XL,Ye M,Zhang Q,et al.Histological study of three layers of muscle tube around anorectum in human embryo and fetus[J].Chin J Pediatr Surg,2024,45(11):1018-1023.DOI:10.3760/cma.j.cn421158-20240116-00033.
[19] 张翔，张宏伟.先天性肛门直肠畸形的病理改变与手术方式[J].临床小儿外科杂志，2017，16（3）：292-297.DOI:10.3969/j.issn.1671-6353.2017.03.023. Zhang X,Zhang HW.Pathological features and surgical approaches of congenital anorectal malformations[J].J Clin Ped Sur,2017,16(3):292-297.DOI:10.3969/j.issn.1671-6353.2017.03.023.
[20] 陈亚军.小儿肛肠疾病治疗现状[J].国际外科学杂志，2007，34（11）：721-723.DOI:10.3760/cma.j.issn.1673-4203.2007.11.001. Chen YJ.Current status of pediatric anorectal disease treatment[J].Int J Surg,2007,34(11):721-723.DOI:10.3760/cma.j.issn.1673-4203.2007.11.001.
[21] Goulin J,La Barbera G,Delmonte A,et al.Revisiting anatomy of anorectal malformations with a symbolic AI segmentation method applied on diffusion MRI:the lumbosacral plexus development and microarchitecture is different in high and low types[J/OL].J Imaging Inform Med，2025.https://link.springer.com/article/10.1007/s10278-024-01378-2.DOI:10.1007/s10278-024-01378-2.
[22] Dougherty D,Ralls MW,Plagens CJ,et al.Functional outcomes of patients who underwent anorectal malformation repair using MRI guidance[J].J Pediatr Surg,2024,59(6):1044-1049.DOI:10.1016/j.jpedsurg.2023.12.023.
[23] den Hollander VEC,Trzpis M,Broens PMA.Relation between the internal anal sphincter and defecation disorders in patients with anorectal malformations[J].J Pediatr Gastroenterol Nutr,2024,79(3):525-532.DOI:10.1002/jpn3.12302.
[24] Tainaka T,Uchida H,Tanaka Y,et al.Long-term outcomes and complications after laparoscopic-assisted anorectoplasty vs.posterior sagittal anorectoplasty for high-and intermediate-type anorectal malformation[J].Pediatr Surg Int,2018,34(10):1111-1115.DOI:10.1007/s00383-018-4323-4.
[25] Pe?a A,Bealer J,Bischoff A.Re:“Assessing the long term manometric outcomes in patients with previous laparoscopic anorectoplasty (LARP) and posterior sagittal anorectoplasty (PSARP)” by Chung,et al.JPS.Vol.53,no.10 October 2018 pp1933-1936[J].J Pediatr Surg,2019,54(6):1262.DOI:10.1016/j.jpedsurg.2018.11.024.
[26] Ambartsumyan L.Medical management of anorectal malformations[J].Aliment Pharmacol Ther,2024,60(S1):S77-S84.DOI:10.1111/apt.17897.
[27] Wehrli LA,Reppucci ML,Ketzer J,et al.Stricture rate in patients after the repair of anorectal malformation following a standardized dilation protocol[J].Pediatr Surg Int,2022,38(12):1717-1721.DOI:10.1007/s00383-022-05219-7.
[28] M?rzheuser S,Karsten K,Rothe K.Improvements in incontinence with self-management in patients with anorectal malformations[J].Eur J Pediatr Surg,2016,26(2):186-191.DOI:10.1055/s-0034-1544050.
[29] Zhang ZQ,Cheng Y,Ju JJ,et al.Analysis of the efficacy of biofeedback for faecal incontinence after surgery for anorectal malformation[J].Ann Med,2022,54(1):2385-2390.DOI:10.1080/07853890.2022.2114607.
[30] Giuliani S,Grano C,Aminoff D,et al.Transition of care in patients with anorectal malformations:consensus by the ARM-net consortium[J].J Pediatr Surg,2017,52(11):1866-1872.DOI:10.1016/j.jpedsurg.2017.06.008.
[31] Wong CWY,Chung PHY,Tam PKH,et al.Quality of life and defecative function 10 years or longer after posterior sagittal anorectoplasty and laparoscopic-assisted anorectal pull-through for anorectal malformation[J].Pediatr Surg Int,2020,36(3):289-293.DOI:10.1007/s00383-019-04606-x.
[32] Cairo SB,Gasior A,Rollins MD,et al.Challenges in transition of care for patients with anorectal malformations:a systematic review and recommendations for comprehensive care[J].Dis Colon Rectum,2018,61(3):390-399.DOI:10.1097/DCR.0000000000001033.
[33] Rialon KL,Smith C,Rentea RM,et al.Functional outcomes for patients with congenital anorectal malformations:a systematic review and evidence-based guideline from the APSA outcomes and evidence based practice committee[J].J Pediatr Surg,2025,60(5):162243.DOI:10.1016/j.jpedsurg.2025.162243.
[34] Giron A,Flyer Z,Schomberg J,et al.Post-traumatic stress disorder among patients with anorectal malformation and Hirschsprung disease[J].J Pediatr Surg,2025,60(7):162322.DOI:10.1016/j.jpedsurg.2025.162322.
[35] van der Steeg HJJ,van Rooij IALM,Iacobelli BD,et al.Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula:an ARM-Net consortium study[J].J Pediatr Surg,2022,57(9):89-96.DOI:10.1016/j.jpedsurg.2022.02.015.
[36] Trinidad S,Garrison A,Encisco EM,et al.Long-term male sexual function and fecal incontinence outcomes for adult patients with Hirschsprung disease or anorectal malformation[J].J Pediatr Surg,2023,58(8):1573-1577.DOI:10.1016/j.jpedsurg.2023.04.006.
[37] Hameed RA,Fosby MV,Hoel AT,et al.Mental health,psychosocial functioning and quality of life in adolescents with anorectal malformation[J].J Pediatr Surg,2025,60(9):162422.DOI:10.1016/j.jpedsurg.2025.162422.
相似文献/References:
[1]陆良生阮双岁毕允力陆毅群王翔葛琳娟肖现民.45例两性畸形患儿的诊断及治疗分析[J].临床小儿外科杂志,2011,10(01):0.
[2]谷奇,邹继珍,叶辉,等.促纤维增生性小圆细胞肿瘤诊治体会[J].临床小儿外科杂志,2008,7(01):32.
[3]孙颖华,郑珊,钱蔷英,等.超声检查在胆道闭锁鉴别诊断中的运用价值[J].临床小儿外科杂志,2008,7(04):0.
[4]何炜婧,郑珊,沈淳,等.新生儿腹膜后占位性病变诊治分析[J].临床小儿外科杂志,2008,7(06):5.
[5]张颖,李洪秋,赵群,等.儿童骨嗜酸细胞性肉芽肿的诊断与治疗[J].临床小儿外科杂志,2007,6(01):23.
[6]蒋跃先.845例小儿急性肠套叠诊治体会[J].临床小儿外科杂志,2007,6(02):30.
[7]蒋宏 陈华东 张志崇 潘静 刘钧澄.3例婴儿腹腔巨大积水的诊治体会[J].临床小儿外科杂志,2011,10(03):231.
[J].Journal of Clinical Pediatric Surgery,2011,10(08):231.
[8]张生 金先庆 李晓庆 周德凯 向丽 刘伟. 先天性肠闭锁、肠狭窄120例临床分析[J].临床小儿外科杂志,2011,10(04):273.
[J].Journal of Clinical Pediatric Surgery,2011,10(08):273.
[9]苏琳 王晓晔 崔华雷. 52例儿童腹型过敏性紫癜诊疗分析[J].临床小儿外科杂志,2012,11(01):28.
[10]王伟 贾慧敏 王一. 直肠肛门抑制反射诊断先天性巨结肠符合率的临床分析[J].临床小儿外科杂志,2012,11(01):30.
[11]肖咸明,向晨翥,冯伟,等.先天性肛门直肠畸形伴直肠尿道瘘的早期识别与诊断研究[J].临床小儿外科杂志,2025,(05):429.[doi:10.3760/cma.j.cn101785-202405022-007]
Xiao Xianming,Xiang Chenzhu,Feng Wei,et al.Early identification and accurate diagnosis in children with anorectal malformation with rectourethral fistula[J].Journal of Clinical Pediatric Surgery,2025,(08):429.[doi:10.3760/cma.j.cn101785-202405022-007]
备注/Memo
收稿日期:2025-7-18。
通讯作者:陈亚军,Email:chenyajunmd@aliyun.com