Li Wei,Wang Fei,Lin Gang,et al.Clinical and radiological characteristics of congenital spinal deformity associated with anorectal malformation-[J].Journal of Clinical Pediatric Surgery,2022,21(11):1012-1018.[doi:10.3760/cma.j.cn101785-202209024-003]
肛门直肠畸形合并先天性脊柱畸形的临床及影像学特征分析
- Title:
- Clinical and radiological characteristics of congenital spinal deformity associated with anorectal malformation-
- Keywords:
- Anorectal Malformations; Spinal Deformity; Clinical Classification; Radiographic Characteristies
- 摘要:
- 目的 根据肛门直肠畸形（anorectal malformation，ARM）合并先天性脊柱畸形患儿的临床亚型分析其影像学特征。方法 回顾性分析2008年1月至2019年12月在南京医科大学附属儿童医院新生儿外科就诊后至骨科随诊的72例ARM合并脊柱畸形患儿临床资料，其中男38例，女34例。根据合并脊柱畸形涉及区域将患儿分为三组：Ⅰ组为ARM合并单纯胸腰椎畸形，Ⅱ组为ARM合并单纯骶椎畸形，Ⅲ组为ARM同时合并胸腰椎及骶椎畸形。结合影像学资料，比较三组患儿的年龄、性别、ARM类型、胸腰椎畸形类型及分布、骶椎畸形类型、肋骨畸形及合并其他系统畸形情况。采用SPSS 18.0进行统计分析。因本研究中所有的计量资料均不服从正态分布，故计量资料采用M （Q1，Q3）进行描述，三组间数值比较采用多组比较的Kruskal-Wallis秩和检验，两两比较采用Mann-Whitney检验。三组间性别比例、肛门直肠畸形类型、合并其他系统畸形、椎体畸形分布、肋骨畸形、骶骨畸形分布对比均采用Fisher精确概率法。P<0.05为差异存在统计学意义。结果 Ⅰ、Ⅱ、Ⅲ组ARM患儿分别有30例（41.7%，30/72）、35例（48.6%，35/72）及7例（9.7%，7/72）。Ⅱ组患儿脊柱评估年龄为4.00（3.00，5.00）个月，较Ⅰ组的0.20（0.03，4.00）个月、Ⅲ组的0.70（0.03，5.00）个月年龄偏大（P=0.009）。三组患儿性别比例、ARM类型分布差异无统计学意义（P>0.05）。Ⅰ组胸腰椎畸形好发于主胸段（24/30）及上胸段（17/30），Ⅲ组胸腰椎畸形好发于腰段（6/7）及胸腰段（4/7），两组差异有统计学意义（P=0.002）。Ⅰ、Ⅲ组患儿之间胸腰椎畸形类型、涉及节段数及多发畸形的比例差异无统计学意义（P>0.05）。Ⅱ、Ⅲ组患儿骶椎畸形类型分布差异有统计学意义（P=0.020），Ⅱ组骶椎畸形严重程度高于Ⅲ组。Ⅰ组合并肋骨畸形的发生率高于Ⅱ、Ⅲ组（P=0.002）。Ⅰ组心脏畸形的发生率高于Ⅱ、Ⅲ组（P=0.031），但椎管内畸形的发生率低于Ⅱ、Ⅲ组（P=0.001）。结论 ARM合并先天性脊柱畸形可分为三个临床亚型，区分不同亚型之间的临床及影像学特征差异，对于此类患儿的评估与治疗具有指导意义。
- Abstract:
- Objective To explore the clinical subtypes and radiological characteristics for children with anorectal malformation (ARM) associated with congenital spine deformity.Methods A retrospective review was conducted for 72 ARM children patients who had received treatment between January 2008 and December 2019.There were 38 boys and 34 girls.Based upon the range of vertebral anomalies, they were assigned into Group Ⅰ (n=30, 41.7%):ARM associated with simple thoracic/lumbar vertebral anomalies;Group Ⅱ(n=35, 48.6%):those with simple sacral agenesis and Group Ⅲ (n=7, 9.7%):those with both sacral agenesis and thoracic/lumbar vertebral anomalies.Demographic profiles, ARM type, type/location of vertebral anomalies, sacral agenesis, rib anomalies and concomitant defects of other systems were recorded.SPSS 18.0 was used for statistical analysis.Since all measurement data in this study did not obey normal distribution, M(Q1, Q3) was used to describe the measurement data. Numerical comparison among three groups was conducted by Kruskal-Wallis rank sum test for comparison of multiple groups, and Nemenyi test was used for pound-wise comparison.Fisher’s exact probability method was used to compare the sex ratio, types of anorectal malformations, combined with other systemic malformations, distribution of vertebral malformations, rib malformations, and sacral malformations among the three groups.P<0.05 showed statistical significance.Results The average evaluation age of Group Ⅱ was 4.00(3.00, 5.00) months and it was greater than Group Ⅰ/Ⅲ (P=0.009).No differences existed in gender or ARM type among three groups.Spinal deformity predominated in main thoracic region (24/30) and proximal thoracic region (17/30) in Group Ⅰ whereas lumbar region (6/7) and thoracolumbar region (4/7) were affected in Group Ⅲ (P=0.002).No significant differences in type/level of vertebral anomaly or percentage of multiple anomalies existed between Groups Ⅰ and Ⅲ.Severe sacral agenesis was more common in Group Ⅱ than Group Ⅲ (P=0.020).The prevalence of associated rib anomalies was higher in Group Ⅰ than Group Ⅱ/Ⅲ (P=0.002).And Group Ⅰ had higher incidence of cardiac defects (P=0.031) and a lower incidence of intraspinal anomalies (P=0.001) than Group Ⅱ/Ⅲ.Conclusion ARM patients associated with spine deformity may be divided into three clinical subtypes.Clinical and radiological characteristics vary among three subtypes and carry important implications for disease evaluations and treatments.
参考文献/References:
[1] 吴南, 张元强, 王连雷, 等.先天性脊柱侧凸伴发畸形的临床特点分析[J].中华骨与关节外科杂志, 2019, 12(9):663-667.DOI:10.3969/j.issn.2095-9958.2019.09.03. Wu N, Zhang YQ, Wang LL, et al.Clinical characteristic analysis of anomalies associated with congenital scoliosis[J].Chin J Bone Joint Surg, 2019, 12(9):663-667.DOI:10.3969/j.issn.2095-9958.2019.09.03.
[2] Wang F, Wang X, Medina O, et al.Prevalence of congenital scoliosis in infants based on chest-abdomen X-ray films detected in the emergency department[J].Eur Spine J, 2021, 30(7):1848-1857.DOI:10.1007/s00586-021-06779-3.
[3] Hensinger RN.Congenital scoliosis:etiology and associations[J].Spine (Phila Pa 1976), 2009, 34(17):1745-1750.DOI:10.1097/BRS.0b013e3181abf69e.
[4] Kruger P, Teague WJ, Khanal R, et al.Screening for associated anomalies in anorectal malformations:the need for a standardized approach[J].ANZ J Surg, 2019, 89(10):1250-1252.DOI:10.1111/ans.15150.
[5] Oh C, Youn JK, Han JW, et al.Analysis of associated anomalies in anorectal malformation:major and minor anomalies[J].J Korean Med Sci, 2020, 35(14):e98.DOI:10.3346/jkms.2020.35.e98.
[6] 张天元, 鲍虹达, 刘臻, 等.伴骶骨发育不良的先天性腰骶部畸形远端固定到S1的可行性分析[J].中国脊柱脊髓杂志, 2019, 29(12):1065-1070.DOI:10.3969/j.issn.1004-406X.2019.12.02. Zhang TY, Bao HD, Liu Z, et al.Feasibility analysis of distal anchor at S1 for congenital lumbosacral deformities associated with sacral agenesis[J].Chin J Spine Spinal Cord, 2019, 29(12):1065-1070.DOI:10.3969/j.issn.1004-406X.2019.12.02.
[7] Renshaw TS.Sacral agenesis[J].J Bone Joint Surg Am, 1978, 60(3):373-383.
[8] Pang D.Sacral agenesis and caudal spinal cord malformations[J].Neurosurgery, 1993, 32(5):755-779.DOI:10.1227/00006123-199305000-00009.
[9] Akhaddar A.Caudal regression syndrome (spinal thoraco-lumbo-sacro-coccygeal agenesis)[J].World Neurosurg, 2020, 142:301-302.DOI:10.1016/j.wneu.2020.07.055.
[10] 李正, 王练英.先天性无肛与腰骶椎异常[J].中华小儿外科杂志, 1990, 11(1):19-20.DOI:10.3760/cma.j.issn.0253-3006.1990.01.113. Li Z, Wang LY.Congenital imperforate anus and abnormality of lumbosacral vertabae[J].Chin J Pediatr Surg, 1990, 11(1):19-20.DOI:10.3760/cma.j.issn.0253-3006.1990.01.113.
[11] 姜志娥, 陈雨历, 陈维秀, 等.伴有肛门直肠畸形骶骨发育不全的诊断与治疗[J].中华小儿外科杂志, 2005, 26(8):446-447.DOI:10.3760/cma.j.issn.0253-3006.2005.08.020. Jiang ZE, Chen YL, Chen WX, et al.Diagnosis and treatment of anorectal malformation associated with sacral agenesis[J].Chin J Pediatr Surg, 2005, 26(8):446-447.DOI:10.3760/cma.j.issn.0253-3006.2005.08.020.
[12] Denton JR.The association of congenital spinal anomalies with imperforate anus[J].Clin Orthop Relat Res, 1982, (162):91-98.
[13] Stathopoulos E, Muehlethaler V, Rais M, et al.Preoperative assessment of neurovesical function in children with anorectal malformation:association with vertebral and spinal malformations[J].J Urol, 2012, 188(3):943-947.DOI:10.1016/j.juro.2012.04.117.
[14] Mittal A, Airon RK, Magu S, et al.Associated anomalies with anorectal malformation (ARM)[J].Indian J Pediatr, 2004, 71(6):509-514.DOI:10.1007/BF02724292.
[15] Mirshemirani A.Spinal and vertebral anomalies associated with anorectal malformations[J].Iran J Child Neurol, 2008, 2(4):51-54.
[16] Quan L, Smith DW.The VATER association.Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia:a spectrum of associated defects[J].J Pediatr, 1973, 82(1):104-107.DOI:10.1016/s0022-3476(73)80024-1.
[17] Temtamy SA, Miller JD.Extending the scope of the VATER association:definition of the VATER syndrome[J].J Pediatr, 1974, 85(3):345-349.DOI:10.1016/S0022-3476(74)80113-7.
相似文献/References:
[1]苏璠,杨合英,岳铭,等.先天性肛门闭锁伴直肠前庭瘘经肛穴肛门成形术与矢状入路肛门成形术后近期及远期并发症的Meta分析[J].临床小儿外科杂志,2022,21(10):958.[doi:10.3760/cma.j.cn101785-202110006-011]
Su Fan,Yang Heying,Yue Ming,et al.Clinical efficacies of congenital anorectal malformation with rectovestibular fistula in girls: a Meta-analysis[J].Journal of Clinical Pediatric Surgery,2022,21(11):958.[doi:10.3760/cma.j.cn101785-202110006-011]
[2]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.[doi:10.3760/cma.j.cn101785-202210006-001]
Tang Shaotao,Zhang Mengxin,Chi Shuiqing.Frontiers in surgical treatment of anorectal malformations: current status and future trend of robotic-assisted surgery[J].Journal of Clinical Pediatric Surgery,2022,21(11):1001.[doi:10.3760/cma.j.cn101785-202210006-001]
[3]朱中贤,唐维兵.先天性肛门直肠畸形基础研究的进展与展望[J].临床小儿外科杂志,2022,21(11):1006.[doi:10.3760/cma.j.cn101785-202210017-002]
Zhu Zhongxian,Tang Weibing.Recent advances and future prospects of basic researches on congenital anorectal malformations[J].Journal of Clinical Pediatric Surgery,2022,21(11):1006.[doi:10.3760/cma.j.cn101785-202210017-002]
[4]王哲,谢晓丽,何秋明,等.腹腔镜泌尿生殖窦分离术辅助治疗复杂泄殖腔畸形的临床应用[J].临床小儿外科杂志,2022,21(11):1019.[doi:10.3760/cma.j.cn101785-202205074-004]
Wang Zhe,Xie Xiaoli,He Qiuming,et al.Laparoscopic separation of urogenital sinus in intractable cloaca[J].Journal of Clinical Pediatric Surgery,2022,21(11):1019.[doi:10.3760/cma.j.cn101785-202205074-004]
[5]刘文跃,吴晓霞,赵宝红,等.加速康复外科技术在肛门闭锁并直肠前庭瘘中的应用[J].临床小儿外科杂志,2022,21(11):1029.[doi:10.3760/cma.j.cn101785-202201040-006]
Liu Wenyue,Wu Xiaoxia,Zhao Baohong,et al.Application of enhanced recovery after surgery in infants with anal atresia with rectovestibular fistula[J].Journal of Clinical Pediatric Surgery,2022,21(11):1029.[doi:10.3760/cma.j.cn101785-202201040-006]
[6]潘登,刘会锋,陈力,等.腹腔镜辅助肛门直肠成形术致后尿道憩室的预防措施探讨[J].临床小儿外科杂志,2022,21(11):1035.[doi:10.3760/cma.j.cn101785-202204003-007]
Pan Deng,Liu Huifeng,Chen Li,et al.Combining case and literature reviews for preventing posterior urethral diverticulum after laparoscopic-assisted anorectoplasty[J].Journal of Clinical Pediatric Surgery,2022,21(11):1035.[doi:10.3760/cma.j.cn101785-202204003-007]
[7]黄怡璇,刘志峰.以难治性便秘为主要表现的儿童结肠冗长症诊断及治疗进展[J].临床小儿外科杂志,2022,21(11):1040.[doi:10.3760/cma.j.cn101785-202012016-008]
Huang Yixuan,Liu Zhifeng.Recent advances in the diagnosis and treatment of intractable constipation due to redundant colon in children[J].Journal of Clinical Pediatric Surgery,2022,21(11):1040.[doi:10.3760/cma.j.cn101785-202012016-008]
[8]陈思颖,邬文杰,沈志云,等.新生儿期一期肛门成形术治疗中位肛门直肠畸形疗效评价[J].临床小儿外科杂志,2022,21(12):1168.[doi:10.3760/cma.j.cn101785-202111033-013]
Chen Siying,Wu Wenjie,Shen Zhiyun,et al.Functional evaluations of neonates with intermediate anorectal malformations after primary anoplasty[J].Journal of Clinical Pediatric Surgery,2022,21(11):1168.[doi:10.3760/cma.j.cn101785-202111033-013]
[9]夏仁鹏,邹婵娟,许光,等.不同手术入路肛门成形术治疗中高位肛门直肠畸形的对比研究[J].临床小儿外科杂志,2023,22(09):844.[doi:10.3760/cma.j.cn101785-202211029-009]
Xia Renpeng,Zou Chanjuan,Xu Guang,et al.A comparative study of different surgical approaches for anorectal malformations[J].Journal of Clinical Pediatric Surgery,2023,22(11):844.[doi:10.3760/cma.j.cn101785-202211029-009]
[10]张桃桃,赵清爽,应建彬,等.肛门直肠畸形合并先天性脊髓栓系综合征的发生情况及治疗探讨[J].临床小儿外科杂志,2024,(01):56.[doi:10.3760/cma.j.cn101785-202208030-011]
Zhang Taotao,Zhao Qingshuang,Ying Jianbin,et al.Occurrences and treatments of tethered cord in children with anorectal malformations[J].Journal of Clinical Pediatric Surgery,2024,(11):56.[doi:10.3760/cma.j.cn101785-202208030-011]
备注/Memo
收稿日期:2022-09-15。
基金项目:南京市卫生科技发展专项资金项目（YKK20123）
通讯作者:汪飞,Email:wf051231034@163.com