Li Sen,Pan Weihua,Tan Xiang,et al.Anorectal malformation associated with Hirschsprung’s disease: a report of three cases and literature review[J].Journal of Clinical Pediatric Surgery,2021,20(02):161-167.[doi:10.12260/lcxewkzz.2021.02.010]
肛门直肠畸形合并先天性巨结肠3例及文献复习
- Title:
- Anorectal malformation associated with Hirschsprung’s disease: a report of three cases and literature review
- Keywords:
- Anus; Rectum/AB; Hirschsprung Disease
- 分类号:
- R657.1 R574
- 摘要:
- 目的 先天性肛门直肠畸形合并先天性巨结肠临床上罕见，常易漏诊。本文对先天性肛门直肠畸形合并先天性巨结肠患者的临床特点、诊疗及预后进行总结，以期提高对此类疾病的认识。方法 2003年9月至2019年10月，上海交通大学医学院附属新华医院共收治3例肛门直肠畸形合并巨结肠男性患者，均为无肛直肠会阴瘘；检索万方、维普、中国知网、Pubmed、Medline数据库截至2019年10月已发表的关于肛门直肠畸形合并先天性巨结肠的相关文献，并进行分析。结果 本研究中3例均于出生后诊断为肛门直肠畸形，行肛门成形术（2~11 d），后因持续便秘，确诊合并先天性巨结肠，行经腹经肛门Soave手术时患者月龄17~36个月。术后随访2~11年，3例术后污粪症状曾持续数年，经饮食调整、排便训练等保守治疗后排便状况逐渐得到改善，目前排便控制能力良好。通过检索数据库，检索到21篇相关文献（共报道71例患者），联合本中心3例患者，共有74例患者纳入本次研究。其中男42例，女32例，年龄2天至28岁，41例发现合并其他系统畸形。42例生后行结肠造瘘术，21例（21/42，50%）于肛门成形术前诊断合并先天性巨结肠。53例（53/74，71.6%）行肛门成形术后持续出现腹胀、便秘等症状，平均保守治疗8个月后确诊合并先天性巨结肠。74例均行巨结肠根治手术，40例（40/74，54.1%）采用Soave术，18例（18/74，24.3%）采用Duhamel术，8例（8/74，10.8%）采用Swenson术，8例（8/74，10.8%）采用Rehbein术，术后病理结果均证实无神经节细胞。38例进行了随访，排便状况良好。结论 对于先天性肛门直肠畸形患者，如术后出现便秘持续并加重且保守治疗无效时，应警惕合并先天性巨结肠的可能；以直肠黏膜活检为依据的病理学诊断依然是诊断的金标准。Soave根治术安全有效，可作为优选的手术方式。
- Abstract:
- Objective The association of anorectal malformation (ARM) with Hirschsprung’s disease (HD) is rare so that a misdiagnosis is frequent in clinical practices.The objective was to improve understanding through its clinical diagnosis and treatment.Methods From September 2003 to October 2019,a total of 3 boys with perineal fistula ARM were associated with HD.More clinical cases were retrieved from the databases of Wanfang,Weipu,CNKI,PubMed and Medline up until October 2019.Results Three patients underwent Soave operations (17-36 month).The postoperative follow-up period was from 2 to 11 years.The postoperative incontinence symptoms persisted for several years.After such conservative measures as dietary adjustments and defecation training,defecation condition gradually improved and fecal control was decent.There were 42 boys and 32 girls.Associated syndromes were found in 41 children.Diverting enterostomy at birth was performed in 42 cases and 21(21/42,50%) were definitely diagnosed as ARM coexisting with HD before ARM correction.In 53(53/74,71.6%) cases,abdominal distension and constipation persisted after anal angioplasty.The average diagnostic time of HD was 8 months after conservative measures.All of them underwent radical megacolon operation (2 day-28 year).And 40 cases underwent Soave’s pull-through (40/74,54.1%).Other procedures included Duhamel procedure (18/74,24.3%),Swenson’s pull-through (8/74,10.8%) and Rehbein’s pull-through (8/74,10.8%).Conclusion For postoperative children with ARM,the possibility of concomitant HD should be considered when constipation persists and worsens and conservative treatment is ineffective.Its pathological diagnosis is based upon rectal mucosal biopsy.Soave’s operation is ideal for anorectal malformation associated with Hirschsprung’s disease.
参考文献/References:
1 Pena A,Levitt MA.Imperforate anus and cloacal malformations[M].London:Ashcraft K,Holcomb GW III,Murphy JP (eds) Ashcraft’s Pediatric Surgery,2010:468-490.
2 Stoll C,Alembik Y,Dott B,et al.Associated malformations in patients with anorectal anomalies[J].Eur J Med Genet,2007,50(4):281-290.DOI:10.1016/j.ejmg.2007.04.002.
3 Levitt MA,Pena A.Anorectal malformations[J].Orphanet J Rare Dis,2007,2(33):33.DOI:10.1186/1750-1172-2-33.
4 Holschneider AM,Meier-Ruge W,Ure BM.Hirschsprung’s disease and allied disorders-areview[J].Eur J Pediatr Surg,1994,4(5):260-266.DOI:10.1055/s-2008-1066115.
5 Kelly JH.Cineradiography in anorectal malformations[J].J Pediatr Surg,1969,4(5):538-546.DOI:10.1016/0022-3468(69)90094-3.
6 Mahboubi S,Templeton JM Jr.Association of Hirschs-prung’s disease and imperforate anus in a patient with ‘cat-eye’ syndrome.A report of one case and review of the literature[J].Pediatr Radiol,1984,14(6):441-442.
7 Takada Y,Aoyama K,Goto T,et al.The association of imperforate anus and Hirschsprung’s disease in siblings[J].J Pediatr Surg,1985,20(3):271-273.DOI:10.1016/S0022-3468(85)80119-6.
8 Ikeda K,Goto S.Additional anomalies in Hirschsprung’s disease:an analysis based on the nationwide survey in Japan[J].Z Kinderchir,1986,41(5):279-281.
9 Ward J,Sierra IA,D’Croz E.Cat eye syndrome associated with aganglionosis of the small and large intestine[J].J Med Genet,1989,26(3):647-648.DOI:10.1136/jmg.26.10.647.
10 Watanatittan S,Suwatanaviroj A,Limprutithum T,et al.Association of Hirschsprung’s disease and anorectal malformation[J].J Pediatr Surg,1991,26(2):192-195.DOI:10.1016/0022-3468(91)90908-c.
11 Poenaru D,Uroz-Tristan J,Leclerc S,et al.Imperforate anus,malrotation and Hirschsprung’s disease:a rare association[J].Eur J Pediatr Surg,1995,5(3):187-189.DOI:10.1055/s-2008-1066202.
12 Flageole H,Fecteau A,Laberge JM,et al.Hirschsprung’s disease,imperforate anus,and Down’s syndrome:a case report[J].J Pediatr Surg,1996,31(6):759-760.
13 Clarke SA,Van der Avoirt A.Imperforate anus,Hirschs-prung’s disease,and trisomy 21:a rare combination[J].J Pediatr Surg,1999,34(12):1874-1874.
14 Baltogiannis N,Mavridis G,Soutis M,et al.Currarino triad associated with Hirschsprung’s disease[J].J Pediatr Surg,2003,38(7):1086-1089.DOI:10.1016/S0022-3468(03)00199-4.
15 Haynes JH,Bagwell CE.Hirschsprung’s disease and imperforate anus in Pallister-hall syndrome:a new association[J].J Pediatr Surg,2003,38(9):1411-1412.DOI:10.1016/S0022-3468(03)00411-1.
16 Martucciello G,Torre M,Belloni E,et al.Currarino syndrome:proposal of a diagnostic and therapeutic protocol[J].J Pediatr Surg,2004,39(9):1305-1311.DOI:10.1016/j.jpedsurg.2004.05.003.
17 Amornfa J,Taecholarn C,Khaoroptham S.Currarino syndrome:report of two cases and review of the literature[J].J Med Assoc Thai,2005,88(11):1697-1702.
18 Jiménez-Urueta PS,Alvarado-García R,Gallego-Grijalva JE.Colon aganglionosis in patients with anorectal malformation.Analysis of five cases[J].Cir Cir,2005,73(4):283-285.
19 Mavridis G,Livaditi E,Soutis M,et al.Complete currarino triad in all affected members of the same family[J].Eur J Pediatr Surg,2005,15(5):369-373.DOI:10.1055/s-2005-865783.
20 Arbell D,Gross E,Orkin B,et al.Imperforate anus,malrotation,and Hirschsprung’s disease:a rare and important association[J].J Pediatr Surg,2006,41(7):1335-1337.DOI:10.1016/j.jpedsurg.2006.03.038.
21 Kilickesmez O,Hakki Gol I,Uzun M,et al.Complete familial currarino triad in association with Hirschsprung’s disease:magnetic resonance imaging features and the spectrum of anorectal malformations[J].Acta Radiol,2006,47(4):422-426.DOI:10.1080/02841850600598327.
22 Mengistu AD.Hirschsprung’s disease and imperforate anus in a new born:unusual association[J].Ethiop Med J,2006,44(1):81-83.
23 Sinha CK,Grewal A,Ward HC.Short-segment Hirschs-prung’s disease,cat eye syndrome,and anorectal malformation:a unique association[J].J Pediatr Surg,2007,42(8):1454-1456.DOI:10.1016/j.jpedsurg.2007.03.059.
24 Suomalainen A,Wester T,Koivusalo A,et al.Congenital funnel anus in children:associated anomalies,surgical management and outcome[J].Pediatr Surg Int,2007,23(12):1167-1170.DOI:10.1007/s00383-007-2024-5.
25 Oshio T.Imperforate anus,malrotation,and Hirschsprung’s disease with double zonal aganglionosis:an extremely rare combination[J].J Pediatr Surg,2008,43(1):222-226.DOI:10.1016/j.jpedsurg.2007.09.005.
26 李乐,李万福,张廷冲,等.肛门直肠畸形合并先天性巨结肠的诊治[J].中华小儿外科杂志,2008,29(10):584-586.DOI:10.3760/cma.j.issn.0253-3006.2008.10.003. Li L,Li WF,Zhang TC,et al.Diagnosis and treatment of anorectal malformation associated with Hirschsprung’s disease[J].Chin J Pediatr Surg,2008,29(10):584-586.DOI:10.3760/cma.j.issn.0253-3006.2008.10.003.
27 Raboei EH.Patients with anorectal malformation and Hir-schsprung’s disease[J].Eur J Pediatr Surg,2009,19(5):325-327.DOI:10.1055/s-0029-1224131.
28 Luo CC,Ming YC,Chu SM,et al.Rare association of malrotation,imperforate anus and Hirschsprung’s disease in an infant[J].Pediatr Int,2010,52(1):e9-e10.DOI:10.1111/j.1442-200X.2009.02988.x.
29 Zundel S,Obermayr F,Schaefer JF,et al.Hirschsprung disease associated with total colonic agenesis and imperforate anus case report and review of the literature[J].J Pediatr Surg,2010,45(1):252-254.DOI:10.1016/j.jpedsurg.2009.09.036.
30 Isik N,Elmac? I,Gokben B,et al.Currarino triad:surgical management and follow-up results of three cases[J].Pediatr Neurosurg,2010,46(2):110-119.DOI:10.1159/000319007.
31 Lukong CS,Mshelbwala PM,Anumah MA,et al.Anorectal malformation coexisting with Hirschsprung’s disease:a report of two patients[J].Afr J Paediatr Surg,2012,9(2):166-168.DOI:10.4103/0189-6725.99409.
32 Ohno K,Nakamura T,Azuma T,et al.Familia1 Currarino syndrome associated with Hirschsprung disease:Two case of a mother and daughter[J].J Pediatr Surg,2013,48(1):233-238.DOI:10.1016/j.jpedsurg.2012.10.061.
33 Eltayeb AA,Refaiy A.Association of Hirsc-hsprung’s disease with anorectal malformations:the early alarming signs for diagnosis and comorbidity related to this association[J].J Pediatr Surg,2014,49(5):341-343.DOI:10.1016/j.jpedsurg.2014.04.007.
34 Hofmann AD,Puri P.Association of Hirschsprung’s disease and anorectal malformation:a systematic review[J].Pediatr Surg Int,2013,29(9):913-917.DOI:10.1007/s00383-013-3352-2.
35 Kiesewetter WB,Sukarochana K,Sieber WK.The frequency of aganglionosis associated with imperforate anus[J].Surgery,1965,58(5):877-880.
36 Singh SJ,Croaker GDH,Manglick P,et al.Hirschsprung’s disease:the Australian paediatric surveillance unit’s experience[J].Pediatr Surg Int,2003,19(4):247-250.DOI:10.1007/s00383-002-0842-z.
相似文献/References:
[1]孙驰于增文李索林李英超耿娜徐伟立.腹腔镜经脐及肛门自然腔道巨结肠根治术临床分析[J].临床小儿外科杂志,2011,10(01):0.
SUN Chi,YU Zeng wen,LI Suo lin,et al.Transumbilical single port laparoscopy hybrid transanal endorectal pullthrough for Hirschsprung’s disease.[J].Journal of Clinical Pediatric Surgery,2011,10(02):0.
[2]刘鸿坚杨传民祁泳波王千于丹张晋绥张强李伟李友.经肛门改良Soave术治疗先天性巨结肠80例疗效分析[J].临床小儿外科杂志,2011,10(01):0.
[3]苏义林,王忠荣,徐兵,等.经肛门Soave巨结肠根治术后肛门功能与直肠肛管测压的研究[J].临床小儿外科杂志,2008,7(01):11.
[4]黄焱磊,郑珊.先天性肛门直肠畸形直肠末端PGP9.5和S-100蛋白表达的临床研究[J].临床小儿外科杂志,2008,7(06):7.
[5]刘鸿坚 祁泳波 王千 张晋绥 张强 张勇 孙健 王泽丹. 经肛门改良Soave术和经腹手术治疗先天性巨结肠疗效比较[J].临床小儿外科杂志,2012,11(01):25.
[6]张光磊 吴华哲 陈伟明. 经肛门巨结肠根治手术方式的改进[J].临床小儿外科杂志,2013,12(05):408.
[7]张敏,吴江,王波,等. 经肛门改良Soave手术治疗小儿先天性巨结肠72例[J].临床小儿外科杂志,2016,15(01):88.
[8]吴晓霞,孙小兵,安果仙,等.肛门直肠畸形患儿术后肛门括约肌肛管内超声评价及意义[J].临床小儿外科杂志,2019,18(05):404.[doi:10.3969/j.issn.1671-6353.2019.05.013]
Wu Xiaoxia,Sun Xiaobing,An Guoxian,et al.Evaluation of postoperative anal sphincter with endoanal ultrasound in children with anorectal malformation[J].Journal of Clinical Pediatric Surgery,2019,18(02):404.[doi:10.3969/j.issn.1671-6353.2019.05.013]
[9]周莹,沈淳,黄焱磊,等.先天性肛门直肠畸形术后再手术因素分析[J].临床小儿外科杂志,2020,19(10):866.[doi:10.3969/j.issn.1671-6353.2020.10.002]
Zhou Ying,Shen Chun,Huang Yanlei,et al.Clinical study of reoperative factors for congenital anorectal malformation[J].Journal of Clinical Pediatric Surgery,2020,19(02):866.[doi:10.3969/j.issn.1671-6353.2020.10.002]
[10]李龙,周燕,王常林,等.肛门直肠畸形患儿肛周肌肉改变的研究[J].临床小儿外科杂志,2020,19(10):872.[doi:10.3969/j.issn.1671-6353.2020.10.003]
Li Long,Zhou Yan,Wang Changlin,et al.Anatomic observations on anorectal musculatures of normal and anorectal malformations in neonates[J].Journal of Clinical Pediatric Surgery,2020,19(02):872.[doi:10.3969/j.issn.1671-6353.2020.10.003]
[11]王 斌
叶 明
毛健雄
裴洪刚.腹骶会阴肛门成型术治疗高位肛门闭锁的临床应用[J].临床小儿外科杂志,2010,9(02):0.
Wang Bin,Ye Ming,Miao Jian Xiong,et al.Clinical practice of treatment of high imperforate anus with abdominoperineoanoplasty[J].Journal of Clinical Pediatric Surgery,2010,9(02):0.
备注/Memo
收稿日期:2019-09-05。
基金项目:2019年上海市"科技创新行动计划"（编号：9441905500）
通讯作者:王俊,Email:wangjun@xinhuamed.com.cn