先天性肛门直肠畸形患儿术后排便功能障碍病因研究进展

先天性肛门直肠畸形(anorectal malformation,ARM)是小儿外科中常见的消化道畸形,排便功能障碍仍然是许多ARM患儿术后常见的后遗症,严重影响了术后生活质量.ARM患儿术后排便功能障碍主要表现为便失禁和便秘,盆底肌和腰骶段脊髓神经元的先天发育缺陷、肛周肌肉群、自身肠神经系统(enteric nervous system,ENS)的发育不良、术巾对肛周肌肉及神经的医源性损伤等均能影响术后的排便功能.本文对ARM术后排便功能障碍的病因研究进展综述如下.     

Shh/Bmp4信号通路在先天性肛门直肠畸形末端肠壁神经系统中的作用

肛门直肠畸形(anorectal malformation,ARM)是小儿外科常见的消化道畸形,手术是目前最主要的治疗方式,但仍有一部分ARM患者术后存在着不同程度的排便功能障碍,影响患者术后生活质量.虽然ARM的具体发病机制及术后排便功能障碍发生机制尚不明确,但有文献指出直肠末端肠壁神经系统(enteric nerv...     

直肠肛门畸形环境致病因素的研究进展

<正>先天性肛门直肠畸形(Anorectal malformations,ARM)作为常见的先天性消化道畸形之一,发病率约1/5000,且有增加趋势,发病类型多样、复杂,有49.4%左右的直肠肛门畸形合并其他系统发育异常~([1])。治疗上主要为手术治疗,但由于先天性肛门直肠畸形多合并盆底肌肉及神经元发育异常,术后常存在肛门排便功能异常等并发症,对患儿的身心发育影响颇大~([2-3])。因此能从病因学层次预防直肠     

肛门直肠畸形大鼠盆底肌异常发育的研究进展北大核心CSCD

先天性肛门直肠畸形(anorectal malformations,ARM)是小儿外科常见的先天畸形之一,便秘和便失禁是ARM术后最常见的并发症,盆底肌发育异常是影响ARM术后患儿排便的重要因素。本文综合PubMed以及中国知网上检索到的ARM大鼠盆底肌异常发育的文章,分别从分子生物学机制和当前的治疗进展两个方面进行详细描述,旨在理清ARM大鼠盆底肌异常发育机制和治疗的最新进展,以帮助提高我们对于ARM发病机制的认识,促进治疗的临床转化。     

先天性肛门直肠畸形术后排便功能评估标准

肛门直肠畸形是小儿常见的消化道畸形，发生率约1／5000，种类繁多，病理改变复杂，除肛门直肠本身缺陷外，往往还伴发肛周肌肉和神经的缺陷以及其他系统畸形。外科手术虽能纠正解剖畸形，但术后排便控制功能并不尽人意。     

一期Pena肛门成形治疗婴儿中间位无肛7例

先天性肛门直肠畸形占消化道畸形的首位，肛门直肠畸形患儿不仅肛门本身发育异常，而且肛门周围肌肉及神经系统均有不同程度的发育缺陷。肛门直肠畸形的位置越高，成形术后肛门的排便功能障碍越严重。近年来，由于普遍采用后矢状入路肛门直肠成形术（posteriorsagittal anorcctoplastx PSARP），即Pena肛门成形术，进一步改善了中高位直肠肛门畸形的治疗效果，但该术式一般需结肠造口。     

先天性肛门直肠畸形的病理改变与手术方式

<正>先天性肛门直肠畸形(congenital anorectal malformations,ARM)占新生儿消化道畸形的第一位,发病率约为1/5000~([1])。肛门直肠畸形包括轻微的肛门位置开口异常及严重的泌尿生殖系统多发畸形。男女发病率大致相等,男性稍多,严重畸形多见于男性。目前主要通过手术来纠正肛门直肠畸形。近年来,随着手术技术和对该病认识的提高,患儿术后肛门功能和远期生活质量已有了明显提高~([2])。ARM     

小儿肛肠疾病的基础与临床研究亟待加强

肛门直肠畸形是小儿消化道畸形中最为常见的疾病。由于畸形发生的复杂性及病理改变的严重性,常导致手术遗留下许多问题和并发症,约1/3的患儿术后存在不同程度排便功能异常,部分患儿需要终身治疗,给患儿、家长和社会带来负担。目前,我国小儿外科专业区域分布极不平衡,而且尚未形成专科医师准入制     

先天性肛门闭锁直肠远端切除范围的临床病理研究

先天性肛门直肠畸形是小儿最常见的消化道畸形,发病率约为1/1 500～1/5000;是世界卫生组织常规监测的先天畸形之一,直肠盲端和瘘管的位置各异,术后肛门功能恢复各不相同[1].研究证实Cajal细胞在肠道中既是起博细胞又是牵张感受器,因此Cajal细胞在肠壁内的缺失表达必然会引起排便功能障碍,这项研究在直肠肛门畸形的动物实验中得到证实[2].本文研究神经节细胞和Cajal细胞在直肠肛门畸形直肠盲端中的分布情况,并探讨其在手术切除范围中的作用.     

先天性肛门直肠畸形患儿的临床特征及手术后肛门功能相关因素分析CSCD

目的初步分析先天性肛门直肠畸形(anorectal malformation,ARM)患儿的临床特征及影响手术后肛门功能的相关因素。方法回顾性分析2015年1月至2019年12月湖南省儿童医院收治的488例ARM患儿临床资料,包括性别、年龄、畸形类型、合并症、手术方式、术后并发症及预后情况等。结果488例ARM患儿中,男350例,女138例;中位年龄2 d(1~89 d);根据Krinkenbeck分类法,488例ARM患儿分型为:先天性肛门闭锁伴直肠会阴瘘288例,伴直肠前庭瘘53例,伴直肠尿道瘘(含膀胱颈瘘)123例,伴直肠阴道瘘4例,泄殖腔畸形12例,无瘘管4例,肛门狭窄4例;共420例手术后获得有效随访,68例失访,失访率13.9%(68/488)。采用术后肛门功能Kelly评估量表进行疗效评价,其中疗效为优/良376例(376/420,90%),差44例(44/420,10%)。对可能影响术后肛门功能的因素进行单因素分析,结果显示,临床分型、手术方式、肛门周围切口感染是影响患儿手术后肛门功能的相关因素(P<0.05)。考虑手术方式主要取决于临床分型,本研究纳入临床分型和肛门周围切口感染2个指标进行多因素Logistic回归分析,结果显示,两者均为术后肛门功能的相关因素(P<0.05)。结论ARM以肛门闭锁合并直肠会阴瘘多见,合并畸形以心脏和泌尿系统多见,中高位肛门闭锁、肛门周围切口感染是影响术后排便功能的主要危险因素。     

Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations

OBJECTIVE: To investigate the frequency of lumbosacral anomalies, the association with urogenital abnormalities, and the correlation with defaecation pattern by magnetic resonance imaging (MRI). METHODS: A prospective analysis was performed of routine MRI in patients with anorectal malformations. Between 1990 and 1994, MRI was performed in 43 such patients: 31 boys and 12 girls. Twenty four had a high anorectal malformation, 16 had a low anorectal malformation, and three had Currarino's triad. MRI was performed before reconstruction in 26, and postoperatively in 17. Urogenital anomalies were found in 21. RESULTS: Abnormalities of the spinal cord and spine were found with MRI in 20 patients (46.5%); caudal regression syndrome in 10, tethered cord in two, a combination of both in three, and other spinal anomalies in five. These anomalies were found in 30% of the patients with low anorectal malformations, and in 50% with high anorectal malformations. In patients with urogenital malformations, MRI more often showed spinal anomalies (13/21, 62%) than in patients without (7/22, 32%). In high anorectal malformations, defaecation was more often a problem in patients with spinal anomalies (12/15, 80%) than in patients without (2/8, 25%). CONCLUSIONS: Spinal anomalies in the lumbosacral region were found with MRI in 46.5% of patients with anorectal malformations. Since presence of these anomalies seems to be related to clinical outcome, MRI should be performed routinely in all such patients.     

Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations.

OBJECTIVE: To investigate the frequency of lumbosacral anomalies, the association with urogenital abnormalities, and the correlation with defaecation pattern by magnetic resonance imaging (MRI). METHODS: A prospective analysis was performed of routine MRI in patients with anorectal malformations. Between 1990 and 1994, MRI was performed in 43 such patients: 31 boys and 12 girls. Twenty four had a high anorectal malformation, 16 had a low anorectal malformation, and three had Currarino''s triad. MRI was performed before reconstruction in 26, and postoperatively in 17. Urogenital anomalies were found in 21. RESULTS: Abnormalities of the spinal cord and spine were found with MRI in 20 patients (46.5%); caudal regression syndrome in 10, tethered cord in two, a combination of both in three, and other spinal anomalies in five. These anomalies were found in 30% of the patients with low anorectal malformations, and in 50% with high anorectal malformations. In patients with urogenital malformations, MRI more often showed spinal anomalies (13/21, 62%) than in patients without (7/22, 32%). In high anorectal malformations, defaecation was more often a problem in patients with spinal anomalies (12/15, 80%) than in patients without (2/8, 25%). CONCLUSIONS: Spinal anomalies in the lumbosacral region were found with MRI in 46.5% of patients with anorectal malformations. Since presence of these anomalies seems to be related to clinical outcome, MRI should be performed routinely in all such patients.     

先天性无肛畸形儿MR成像及其与排便功能关系研究

目的评估先天性肛门直肠畸形儿（anorectal malformations，ARM）尾端发育情况及横纹肌复合体（sphincter muscle complex，SMC）发育状态与排便功能的关系。方法39例ARM，男28例，女11例，应用不同序列体部相控阵列线圈或头部线圈MRI显示ARM直肠闭锁水平、骶尾椎、骶髓、泌尿生殖系的发育情况，并对SMC从多个层面进行定量分析，评估其发育状态与临床评分和肛门功能客观检查的关系。结果39例患儿中，MRI T1WI、T2WI扫描判断畸形水平的正确诊断率为100％，T2WI扫描瘘管检出率为96．9％。骶尾椎和骶髓的异常占41．0％，泌尿生殖系统畸形占20．5％。当耻骨直肠肌宽度的相对值PRWR〈0．18，外括约肌宽度的相对值EASWR〈0．15时，71．4％的ARM术后出现肛门失禁。当PRWR〉0．18，EASWR〉0．15时，91．3％的ARM术后排便功能好。结论MR检查能清楚地显示ARM类型、闭锁水平、SMC发育状态、脊柱脊髓及泌尿生殖系统存在的伴发畸形，从MR影像中找到了评价SMC的定量指标。     

Fecal incontinence in anorectal malformations, neuropathy, and miscellaneous conditions

In the majority cases, fecal soiling in children is functional and usually associated with severe constipation. Fortunately, functional soiling is a self-limiting problem and usually disappears at puberty. Organic fecal incontinence is a consequence of congenital malformations affecting the anorectum, anal sphincters, or the spinal cord. Inability to control bowel function may be permanent, as in patients with myelodysplasia; self-limiting, as in patients who have fecal soiling after a pull-through operation for Hirschsprung's disease; or partial, as in many patients who have undergone repair of an anorectal malformation. The purpose of this report is to review the etiology, long-term outcome, and evolution of the management of different types of organic fecal incontinence in children. Knowledge of the pathophysiology of fecal incontinence has accumulated during recent decades, and this provides the basis of modern treatment modalities that have revolutionized treatment so that today most patients can be provided total or at least social continence from early childhood.     

Tethered cord associated with anorectal malformation

Ten children with a tethered cord and also an anorectal malformation are reported in this document. The anorectal malformations comprised 5 vesicointestinal fissures, 2 cloacal exstrophies, 2 rectovesical fistulas and 1 rectobulbar fistula. All of the patients underwent colostomy in advance of surgery for untethering of the spinal cord. Although their neurologic deficits had previously been considered static, they were subjected to radiographic examination of the caudal spine and found to have a tethered cord. These 10 children were among 55 children with a tethered cord surgically treated at the Division of Neurosurgery of the Osaka Medical Center and Research Institute for Maternal and Child Health during the last 11 years. Data were obtained for these 10 children (6 boys and 4 girls, mean age 1.7 years) who underwent surgical untethering. Several hypotheses are offered to explain this association. Anorectal malformations are related to underlying spinal cord anomalies, which may be amenable to neurosurgical correction. Eight of our patients had no skin stigma of the lumbosacral region, in contrast to an ordinary tethered cord. Spinal cord imaging is necessary to closely scrutinize these children.     

Bowel function after surgery for anorectal malformations in patients with tethered spinal cord

Tethered spinal cord (TC) is an anomaly frequently recognized in association with anorectal malformations (ARM). However, the influence of TC on bowel function in children with ARM remains unknown. Furthermore, there are few studies that have assessed anorectal function in children with ARM and TC. The aim of this study was to evaluate anorectal function in ARM patients with TC using clinical assessment and anorectal manometry. Among 258 patients with ARM, this retrospective investigation included 35 patients who underwent spinal magnetic resonance imaging (MRI) after surgery for ARM. The patients were divided into two groups based on the presence or absence of TC, and bowel function was assessed by Kelly’s clinical score and anorectal manometry. Tethered cord was found in nine of the 35 patients (26%) with ARM. Of the ARM patients, TC was noted in four of 11 (36%) with high type anomalies, one of 8 (13%) with intermediate type anomalies, two of 14 (14%) with low type anomalies, and two of two patients (100%) with cloacal anomalies. Kelly’s clinical score did not significantly differ between the two groups. However, two of the nine patients with TC had poor bowel function (Kelly’s score; 2–0 points). On the contrary, patients without TC did not have poor bowel function. Anorectal manometry did not show a significant difference between patients with and without TC. However, the two patients with TC who had poor bowel function by Kelly’s score had low anal resting pressure, which was essential for achieving fecal continence. In conclusion, the present study showed that tethered cord was more frequently found in patients with more severe anorectal anomalies. Patients with TC were more likely to have poor bowel function, but this did not reach statistical significance. Presented at the 14th International Paediatric Colorectal Club, York, UK, 14–16 July 2007.     

Magnetic resonance detection of myelodysplasia in children with Currarino triad

Purpose. To evaluate the role of MRI in the detection of myelodysplasia in children with Currarino triad. Materials and methods. Six patients (two girls, four boys, aged 7 months–14 years, mean age 6 years) were studied with MRI, voiding cystourethrogram and barium enema or fistulography. CT and ultrasonography were also performed in two patients. Results. All patients presented with partial agenesis of the sacrum. Three patients suffered from an intermediate form of anorectal malformation (ARM) and three had a high form of ARM. The presacral masses consistent with Currarino triad included anterior meningocoele in three patients, lipoma in two patients and anterior lipomeningocoele in one patient. MRI diagnosed tethering of the spinal cord in four of six patients. The tethering of the spinal cord was due to a lipomeningocoele in one patient, an intradural lipoma in one patient and a lipoma of the filum in two patients. Conclusion. The association of Currarino triad with tethered spinal cord seems more common than generally reported in the literature. Preoperative MRI of the lumbosacral spine is essential to detect significant myelodysplasia in all patients with Currarino triad. Received: 15 January 1997 Accepted: 23 June 1997     

Radiology of anorectal malformations: What does the surgeon need to know?

Imaging is extremely important throughout all phases of care provided to children with anorectal malformations (ARM). A preoperative determination of the patient specific malformation will help establish the operative plan. Moreover, the majority of ARM patients will have an associated anomaly that will require imaging workup for full understanding of those abnormalities prior to addressing the ARM. The complexity of ARM care will mandate continued imaging throughout the post-operative period even in those with straight forward malformations.     

先天性肛门直肠畸形术后合并便秘患儿排便功能评定及病因探讨

目的便秘是先天性肛门直肠畸形(anorectal malformation,ARM)术后常见的并发症,其病理改变复杂,病因尚不清楚。本研究利用多种客观检查方法对ARM术后便秘患儿肛门直肠功能和神经功能进行评定,并对其病因进行探讨。方法利用同位素排便造影、直肠肛管测压、肌电图和肛门括约肌神经电生理等方法对49例ARM患儿和31例正常儿童的排便功能进行全面、系统和动态的评价,49例ARM患儿根据畸形位置分为中低位组和高位组,每组再根据是否发生便秘分出两个亚组,并对上述测量指标进行统计分析。结果同位素排便造影结果显示,ARM术后便秘组半排时间[中低位:(13.45±8.35)s;高位:(20.59±4.26)s]与术后无便秘组[中低位:(4.69±6.86)s;高位:(7.66±6.38)s]相比明显延长,ARM术后便秘组排空率[中低位:(29.35±14.84)s;高位:(33.00±9.04)s]与术后无便秘组[中低位:(61.70±23.01)s;高位:(60.31±30.38)s]相比明显降低,差异具有统计学意义(P<0.05)。直肠肛管测压检测结果显示,直肠感觉阈在所有ARM组中均明显高于正常组(P<0.05),ARM便秘组[中低位:(53.57±9.45)mL;高位:(57.50±9.14)mL]高于ARM无便秘组[中低位:(46.32±14.61)mL;高位:(47.27±8.76)mL]。ARM便秘组感觉收缩时间[中低位:(2.79±0.39)s;高位:(3.51±1.93)s]明显长于ARM无便秘组[中低位:(1.97±0.67)s;高位:(2.11±0.43)s],差异具有统计学意义(P<0.05)。肌电图结果显示,反映排便动力的痉挛指数在术后合并便秘组均明显高于未合并便秘组。神经电生理结果显示会阴-肛门反射潜伏期在ARM患儿组均明显延长,其中ARM合并便秘组[中低位:(66.04±16.20)ms;高位:(70.41±17.91)ms]延长更加明显,与ARM无便秘组[中低位:(38.51±16.92)ms;高位:(49.91±9.45)ms]相比存在统计学差异(P<0.05)。结论ARM术后便秘患儿直肠感觉功能和排便动力存在明显异常,其严重程度与支配盆底肌肉的神经功能异常有关。治疗前应进行详细、系统的肛门直肠和神经功能的客观检查,明确排便功能障碍的具体病因和病理改变。     

先天性肛门直肠畸形相关排尿异常的尿动力学评估北大核心CSCD

先天性肛门直肠畸形(ARM)占小儿消化道畸形的首位,发病率在新生儿中为1/5000-1/1500。该病常表现为肛门狭窄或肛门闭锁,伴或不伴瘘管和泄殖腔畸形。其中泌尿生殖系统伴发畸形最多见,发生率为26%-55%。35%-50%的儿童出现脊髓束末梢畸形或神经源性下尿路功能障碍,这也是ARM合并排尿异常症状的常见原因。尿动力学检查(UDS)是评估ARM合并下尿路功能变化最好的方法,可以对膀胱尿道功能进行客观分类指导并制定精准治疗方案和随访治疗效果。现就ARM合并排尿异常的原因及相关UDS评估的进展进行综述,为临床提供参考。