2.136 便秘患儿肠道活动的测压观察

目的鉴别便秘原因,探索无神经节细胞肠段的异常收缩活动和直肠顺用性的变化及评定直肠肛管测压在诊断先天性巨结肠中的作用.方法本院自2000年3月～2001年5月对因便秘就诊的80例患儿和70例正常儿进行同步的直肠肛管及乙状结肠测压观察,并以直肠粘膜组织活检组化染色检查和钡灌肠检查为对照.结果 70例正常儿全部存在直肠肛管松弛反射(RAIR).80例便秘患儿中,18 例存在RAIR,但可见有不同形式的异常波形,而且直肠静息压低于正常.诊断为直肠肛管膜状狭窄合并继发性巨结肠、直肠脱垂等.62例无RAIR反射,诊断为先天性巨结肠,其中32例 (51.6%)可测得同步发生的多节段泛发性收缩.测试时发生排便的28例先天性巨结肠中25例未测得推进性蠕动波;12例可见乙状结肠高大的蠕动波不能通过病变直肠.而且巨结肠病变直肠顺应性(1.0～2.5mL/mmHg)明显低于正常儿(2.4～7.4mL/mmHg).62例巨结肠患儿经手术根治38例,术后均病理证实.结论直肠肛管测压可客观的评定肛门直肠功能,鉴别便秘原因,指导临床治疗,而且准确率高于钡灌肠检查和直肠粘膜局部活检.     

经肛门Soave Ⅰ期脱出根治术治疗婴幼儿长段型先天性巨结肠

目的回顾分析经肛门Soave Ⅰ期脱出根治术治疗先天性巨结肠长段型的手术过程、疗效及记录,探讨长段型先天性巨结肠经肛门脱出非开腹治疗的可行性、安全性和较开腹手术的优越性。方法自2001年应用该术式治疗长段型先天性巨结肠患儿39例。年龄6个月～3岁,平均年龄1.92岁,均经钡剂灌肠、直肠测压和病理证实为先天性巨结肠。随访手术时间,出血量和并发症。结果经肛门直接脱出38例,由于痉挛段位于结肠肝区腹腔镜辅助下脱出1例;直接拖出痉挛段最长60 cm,至横结肠;平均切除结肠58 cm,最长75 cm;平均手术时间107 min,均于术后第2～4天进食,术后平均住院日9.3 d,患儿术后一个月随访时排便4～6次/d,半年时排便1～3次/d。结论长段型先天性巨结肠特别是痉挛段位于脾区及脾区以远的,非开腹根治术是可行的和安全的。术前充分的肠道准备,特别是洗肠;是长段型先天性巨结肠非开腹根治术的基础,而彻底切除痉挛段是手术成功的关键。     

先天性巨结肠Ⅰ期经肛门术后肛肠功能评估

目的探讨先天性巨结肠I期经肛门术后患儿的排便功能、结肠和肛门括约肌功能。方法对I期经肛门术后5～9年的89例先天性巨结肠患儿进行排便功能问卷调查,同时对来院随访的58例患儿进行肛门直肠测压和钡灌肠检查,评价其术后肛肠功能。结果 89例先天性巨结肠术后患儿中,72例排便功能良好,排便次数1～2次/d,仅6例3～4次/d,7例稀便时污便,1例经常污便;3例便秘。89例患儿均有便意无便失禁。直肠肛门测压结果：2例患儿术后直肠肛管反射弱阳性;污便组肛管静息压较无症状组及对照组显著降低[（29.4±3.2）mmHg vs（40.2±5.1）mmHg vs（36.9±2.6）mmHg,P〈0.05,P〈0.05）],而直肠静息压显著增高[（65.9±7.2）mmHg vs（25.7±4.1）mmHg vs（11.0±1.3）mmHg,P〈0.05,P〈0.05）];污便组肛管收缩压明显低于无症状组及对照组[（183.5±15.6）mmHg vs（210.2±18.3）mmHg vs（200.6±13.8）mmHg,P〈0.01];而持续缩榨时间三组间差异无统计学意义。便秘组与其他三组间比较差异无统计学意义,且有1例出现括约肌反常运动。钡灌肠结果：先天性巨结肠术后所有患儿的结肠形态恢复良好,结肠框基本正常,未见到明显的痉挛段、移行段和扩张段,乙状结肠迂曲减少或消失,与术中切除肠管长度相符。先天性巨结肠术后所有病例的直肠肛管角比对照组明显增大（121.6°±14.2°vs 82.0°±11.4°,P〈0.01）,污便组又较便秘组及无症状组明显增大（138.4°±16.8°vs 106.3°±13.8°vs 110.6°±15.2°,P〈0.05）。结论先天性巨结肠I期经肛门术后患儿多数排便功能良好,结肠形态及肛门括约肌功能恢复良好,少数患儿污便可能与拖出结肠储便功能代偿不全、乙状结肠迂曲减少或消失、肛门括约肌损伤等有关。     

长段型先天性巨结肠1例报道

刘某,男性,38岁,因便秘10a于2005年3月13日入院.自幼排便正常,10a前开始出现便秘,3～4d排便1次,大便秘结成珠状,偶尔并腹胀;进食正常,无腹痛、呕吐,无发热.4a前便秘加重,须口服大黄、果导等药物方可排便.入院前10d曾出现肠梗阻症状,经保守治疗缓解.查体：发育正常,腹部平坦,未见胃肠型及蠕动波,腹软,未扪及包块,无压痛,肠鸣音稍活跃.钡剂灌肠示：乙状结肠与直肠移行处稍狭窄,其近段逐渐移行变宽,乙状结肠扩张、冗长,近段结肠均扩张,24h后,结肠内仍有钡剂残留.入院诊断：先天性巨结肠.行肠道准备后于全麻下手术,术中见乙状结肠、升结肠肝曲均明显扩张,直肠与乙状结肠交界处及横结肠近端均见狭窄段.行结肠次全切除、直肠肌鞘拖出切除、升结肠与低位直肠吻合术,术中冰冻切片确定直肠远端切缘神经节细胞分布正常.术后病理：横、乙状结肠及直肠粘膜慢性炎症,横结肠狭窄区可见肌层间神经节细胞减少,直肠狭窄区未见神经节细胞.术后随访5个月,排便基本正常,无大便失禁.     

腹腔镜下超声刀小儿先天性巨结肠根治术

目的介绍腹腔镜下超声刀小儿先天性巨结肠根治术的应用经验.方法先天性巨结肠患儿36例,手术年龄3月～9岁,体重4～26公斤.手术中建立人工CO2气腹,腹部置3～4个套管,腹腔镜直视下使用超声刀,分离病变的结肠及直肠至盆底.于肛门齿状线上1.5cm环形切开直肠粘膜并向近端游离,完整剥出粘膜长约6～8cm,切断直肠肌鞘,拖出已游离的结肠,切除病变肠管,结肠近端与直肠粘膜齿状线上切口吻合.结果平均手术时间172min,手术出血最多1例20ml,余均小于5ml,术后近期随访效果良好.结论腹腔镜巨结肠根治术手术打击少,术后恢复快,应用超声刀有助于手术的施行.本法对先天性巨结肠是安全有效的.     

腹腔镜下超声刀小儿先天性巨结肠根治术

目的 介绍腹腔镜下超声刀小儿先天性巨结肠根治术的应用经验．方法 先天性巨结肠患儿36例，手术年龄3月一9岁，体重4—26公斤．手术中建立人工CO2气腹，腹部置3-4个套管。腹腔镜直视下使用超声刀，分离病变的结肠及直肠至盆底．于肛门齿状线上1．5cm环形切开直肠粘膜并向近端游离，完整剥出粘膜长约6．8cm，切断直肠肌鞘，拖出已游离的结肠，切除病变肠管，结肠近端与直肠粘膜齿状线上切口吻合．结果 平均手术时间lmin．手术出血最多l例20ml，余均小于5ml，术后近期随访效果良好．结论 腹腔镜巨结肠根治术手术打击少，术后恢复快，应用超声刀有助于手术的施行．本法对先天性巨结肠是安全有效的．     

经肛门Ⅰ期拖出根治术治疗婴幼儿先天性巨结肠的体会

目的介绍经肛门Ⅰ期拖出根治术治疗婴幼儿先天性巨结肠的初步经验.方法自2002年3月至2002年12月,采用经肛门Ⅰ期拖出根治手术,治疗8例常见型巨结肠.术后2周开始扩肛.结果8例均经肛门顺利完成手术,无并发症.拖出的肠管长22cm～37cm,均经病理证实为先天性巨结肠.随访1～8个月,大便3～5次/日,成形,偶有夜间排便,无污粪.结论经肛门Ⅰ期拖出巨结肠根治术,是一种安全有效的手术方法,减少了传统经腹根治术的并发症,适用于婴幼儿常见型巨结肠的治疗.     

经肛门I期拖出根治术治疗婴幼儿先天性巨结肠的体会

目的：介绍经肛门I期拖出根治术治疗婴幼儿先天性巨结肠的初步经验。方法：自2002年3月至2002年12月，采用经肛门I期拖出根治手术，治疗8例常见型巨结肠。术后2周开始扩肛。结果：8例均经肛门顺利完成手术，无并发症。拖出的肠管长22cm～37cm，均经病理证实为先天性巨结肠。随访1～8个月，大便3～5次／日，成形，偶有夜间排便，无污粪。结论：经肛门I期拖出巨结肠根治术，是一种安全有效的手术方法，减少了传统经腹根治术的并发症，适用于婴幼儿常见型巨结肠的治疗。     

2.154 51例便秘小儿肛门直肠测压分析

目的通过对51例便秘小儿肛门直肠测压,了解便秘小儿肛门直肠压力与先天性巨结肠等疾病的关系.方法使用MMS(胃肠动力监测系统)UPS-2020系统,对51例便秘小儿进行肛门直肠测压,检查时患者处于清醒、非麻醉状态,不用影响直肠功能的药物,不进行肠道准备.测量肛管的静息压、长度及其直肠肛门抑制反射(RAIR)、直肠敏感性和顺应性.结果男性30例,女性21例;年龄最小40天,最大16岁,平均年龄3.7岁; 经外科手术及病理结果证实为先天性巨结肠共19例,其中男性12例,女性7例;其肛管的静息压(平均)为220mmHg,平均高压带长度为3.1cm,直肠肛门抑制反射(RAIR)减弱或消失, 直肠敏感性减低;平均气囊注气96mL.其余32例病人,其肛管的静息压(平均)为120mmHg, 平均高压带长度为2.1cm,直肠肛门抑制反射(RAIR)存在,直肠敏感性和顺应性好;平均气囊注气46mL出现不适感觉,平均气囊注气66mL不能耐受.结论先天性巨结肠肛管的静息压升高,直肠肛门抑制反射(RAIR)减弱或消失,是诊断短型和常规型先天性巨肠可靠方法,在手术前进行肛门直肠测压对指导诊断和治疗有很大的帮助.     

先天性巨结肠54例诊断体会

目的总结先天性巨结肠的诊断方法。方法对2005年1月至2008年8月我院收治的先天性巨结肠的54例患儿的临床资料进行回顾性分析。结果54例患儿，术前及术中诊断为先天性巨结肠，均经手术治疗，术后均经病理证实。术后半年内回访48例恢复良好，4例仍反复发生不同程度腹胀、小肠结肠炎、余2例患儿出现不同程度的污粪。结论先天性巨结肠诊断方法多样，但常规方法对典型病例即可达到确诊。     

Hirschsprung's disease in a young adult: report of a case and review of the literature

Hirschsprung's disease (HD) in adults is rare and often undiagnosed or misdiagnosed. We report a case of HD in a 26-year-old woman who had a history of chronic constipation that required laxatives and enemas since early childhood. She developed severe intestinal obstruction and presented to the emergency department with significant abdominal distension. A computed tomographic scan confirmed significant fecal loading of the entire colon and rectum. An anal manometry revealed lack of normal rectoanal inhibitory reflex. A rectal biopsy showed hypoganglionic anorectum, suspicious for HD. Because of the severe fecal retention that was refractory to conservative management, total proctocolectomy with ileal pouch-anal anastomosis was performed. The entire colon showed massive dilatation and marked wall thickening. Histologic examination showed absence of ganglion cells in submucosal (Meissner's) and myenteric (Auerbach's) plexuses in the distal rectum. A diagnosis of adult HD was made. Her postoperative course was uneventful with complete resolution of the symptoms. Hirschsprung's disease should be considered in adults who have long-standing and refractory constipation.     

先天性巨结肠肠炎与坏死性小肠结肠炎的病理比较

对９例新生儿先天性巨结肠（ＨＤ）肠炎和１６例新生儿坏死性小肠结肠炎（ＮＥＣ）的病理分析，发现ＮＥＣ累及的范围较ＨＤ肠炎广泛，ＮＥＣ肠段的出血、炎症也较ＨＤ肠炎严重。结合２１例动物实验的结果，初步探讨了ＨＤ肠炎和ＮＥＣ发病机理。远端梗阻，近端扩张，肠内压力升高，局部血供减少，滞留粪便中的细菌繁殖、侵入肠壁是ＨＤ肠炎的主要原因；而新生儿有窒息、休克缺氧时，小肠、结肠的血液供应减少，加上免疫变态反应的参与，肠道粘膜缺乏ＩｇＡ的保护，肠道致病菌的过度繁殖、侵入肠壁是ＮＥＣ的发病原因。     

中低位直肠癌患者低位前切除术对肛门直肠功能影响研究

目的：研究中低位直肠癌患者手术对肛门直肠功能的影响。方法：选择2012年1月至2015年1月在我院就诊的中低位直肠癌患者100例,患者肿瘤远侧缘距肛缘距离≤5 cm为低位组,肿瘤远侧缘距肛缘距离5~10 cm为中位组,低位组、中位组患者各50例,所有患者均采用低位前切除术,采用Hida肛门直肠临床功能评分系统对两组患者的肛门直肠功能进行评分,观察患者排便情况,采用肛门直肠功能压力检测仪对患者进行检测。结果：术后低位组患者每日出现便失控、每周出现便失控、排气失控、排液性便失控、排固性便失控等发生率均显著高于中位组,中位组中偶尔便失控、排便功能正常发生率高于低位组,低位组患者排便功能较中位组差,差异有统计学意义(P<0.05),术前两组患者的肛门直肠临床功能评分比较差异无统计学意义(P>0.05),术后3、6、12个月时,低位组患者的肛门直肠临床功能评分较中位组高,差异有统计学意义(P<0.05);术后,中位组患者肛管最大收缩压、肛管静息压、肛管最大收缩时间、直肠肛门抑制反射压力下降等均显著高于低位组,低位组患者肛门直肠测压较中位组差,差异有统计学意义(P<0.05)。结论：低位直肠癌患者手术后肛门直肠功能障碍较中位直肠癌患者显著,在中低位直肠癌患者治疗时,应全面评估患者肛门直肠功能,争取保留患者肛门功能。     

Adult Hirschsprung’s disease: report of four cases

Adult Hirschsprung’s disease (HD) is a rare motor disorder of the gut that is frequently misdiagnosed as refractory constipation. The primary pathogenic defect in adult HD is identical to that seen in infancy or childhood, and is characterized by the total absence of intramural ganglion cells of the submucosal (Meissner) and myenteric (Auerbach) neural plexuses in the affected segment of the bowel. Ninety-four percent of HD cases are diagnosed before the patient reaches 5 years of age, however, on rare occasion, mild cases of HD may go undiagnosed until he or she reaches adulthood. In this study, we describe four cases of adult HD with a history of longstanding recurrent constipation, relieved by laxatives, and presenting to the Department of Gastrointestinal Surgery with progressive abdominal distention, colicky pain or acute intestinal obstruction. Barium enema or computed tomography revealed a grossly distended proximal large colon with fecal retention. Intraoperative frozen section biopsy was performed in all cases and showed aganglionosis of the stenotic segment and a normal distal rectum. In all cases, patient symptoms were completely resolved and there were no complications arising immediately post-surgery or at one-year follow-up. Adult HD should be considered in the differential diagnosis of cases where adult patients present with chronic constipation or even acute intestinal obstruction. The modified one-stage Martin-Duhamel or Rehbein’s procedure is a feasible surgical option for treating cases of adult HD involving a segment or the entire bowel.     

先天性巨结肠患者人类巨细胞病毒UL144基因多态性的研究

目的研究人类巨细胞病毒（human cytomegalovirus,HCMV）UL144基因在先天性巨结肠（Hirschsprung＇s disease,HD）临床株中的多态性,探讨HCMV UL144基因多态性与致病性之间的关系.方法随机选取53个先天性巨结肠患儿痉挛段结肠手术标本及经荧光定量PCR方法检测HCMV DNA为阳性的4个HD患儿的尿标本,对照组为无症状或仅有皮肤轻度黄疸的6个尿标本.应用巢式聚合酶链反应的方法,扩增HCMV UL144基因开放阅读框架（ORF）,扩增阳性的临床株进行双向DNA测序,最后通过DNAclub、Bioedit、DNAstar、GeneDoc等软件进行分析.结果23份HD痉挛段肠组织（46%）及4份尿标本HCMV UL144基因扩增阳性,并且完成测序.种系进化树分析结果显示25个HD患儿的DNA序列分为3个基因型,G1A型64.0%,G2型24%,G3型12%.与对照组比较,经χ^2检验,χ^2=10.93,P为0.012;其中HD临床株G1A和G3型基因经Fisher检验,P为0.015,差异具有统计学意义.全结肠型、长段型及普通型HD分散分布于UL144各个基因型中.结论HD与HCMV感染有关,HCMV可能是HD的病因之一;在HD患儿中,HCMV感染以UL144基因G1A型为主;HD的临床分型与HCMV UL144基因分型无关.     

Altered distribution of interstitial cells of Cajal in Hirschsprung disease

CONTEXT: Constipation or recurrent intestinal dysmotility problems are common after definitive surgical treatment in Hirschsprung disease (HD). c-Kit-positive interstitial cells of Cajal (ICCs) play a key role in the motility function and development of the gastrointestinal tract. Interstitial cells of Cajal that carry the tyrosine kinase receptor (c-Kit) develop as either myenteric ICCs or muscular ICCs under the influence of the kit ligand, which can be provided by neuronal and nonneuronal cells, for example, smooth muscle cells. OBJECTIVE: To investigate the distribution of myenteric and muscular ICCs in different parts of the colon in HD. METHODS: Resected bowel specimens from 8 patients with rectosigmoid HD were investigated using combined staining with c-Kit enzyme and fluorescence immunohistochemistry and acetylcholinesterase and nicotinamide adenine dinucleotide phosphate (NADPH) histochemistry in whole-mount preparations and conventional frozen sections. RESULTS: In the normal bowel, ICCs formed a dense network surrounding the myenteric plexus and at the innermost part of the circular muscle. Myenteric ICCs were absent or sparse in the aganglionic bowel and sparse in the transitional zone. The expression of myenteric ICCs in the ganglionic bowel in HD was reduced compared to that in the normal bowel, and they formed only sparse networks. Muscular ICCs were found in the aganglionic bowel, transitional zone, and normoganglionic bowel of HD in a reduced density compared to the normal bowel. CONCLUSION: This study demonstrates altered distribution of ICCs in the entire resected bowel of HD patients. This finding suggests that persistent dysmotility problems after pull-through operation in HD may be due to altered distribution and impaired function of ICCs.     

Clinical Characteristics and Management of Benign Transient Non-Organic Ileus of Neonates: A Single-Center Experience

Purpose

The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung''s disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung''s disease. The aim of this study is to evaluate the clinical characteristics and proper treatment of BTNIN.

Materials and Methods

A retrospective review was made on the clinical data of 19 neonates who were treated for BTNIN between January 2008 and December 2011 at a single facility.

Results

Abdominal distension occurred in every patient (19/19). Other common symptoms included emesis (5/19), explosive defecation (5/19), and constipation (4/19). The vast majority of patients (15/19) experienced the onset of symptoms between 2 and 4 weeks of age. Radiograph findings from all of the patients were similar to Hirschsprung''s disease. A barium study showed a transition zone in 33.4% (6/18) of the patients. However, rectal biopsy revealed ganglion cells in the distal rectum in 88.2% (15/17) of the patients, and anorectal manometry showed a normal rectoanal inhibitory reflex in 90% (9/10). All patients responded well to conservative treatment. Symptoms disappeared at the mean age of 4.9±1.0 months, and the abdominal radiographs normalized.

Conclusion

BTNIN had an excellent outcome with conservative treatment, and must be differentiated from Hirschsprung''s disease. A rectal biopsy and anorectal manometry were useful diagnostic tools in the differential diagnosis.     

Anorectal dysfunction in systemic sclerosis.

This study was aimed to evaluate the anorectal dysfunction in systemic sclerosis (SSc) and propose the clinical significance of anorectal manometry in patients with SSc. Seven patients with SSc were evaluated with manometry for anorectal function and an additional 11 normal subjects were collected as a control group. The study group underwent esophageal manometry as well and the correlation between the degree of anorectal and esophageal dysfunction was evaluated. Patients showed a lower tolerance for balloon distention of the rectum than controls (minimal sensory volume and urgency volume, P < 0.05). The resting and squeezing pressure of the anal sphincter and the functional length of the anal canal showed no significant difference in these two groups. Rectoanal inhibitory reflex was absent in one (14%) and diminished in two (29%) of seven patients with SSc. SSc patients also showed abnormal esophageal manometry findings, notably decreased LES pressure and body amplitude of distal 2/3 esophagus. The comparison between manometric profiles of anorectum and esophagus showed no significant correlation by statistical analysis. In conclusion, our data could suggest that anorectal function may be impaired in patients with SSc which could reflect the involvement of the anorectum by the disease, and that anorectal manometric studies can be useful to detect such dysfunction in patients with SSc, even before clinical symptoms.     

Acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung's disease.

Rectal suction biopsy with acetylcholinesterase (AChE) histochemistry has gained increased acceptance as the means of definitely diagnosing Hirschsprung's disease (HD) as well as of excluding this diagnosis when evaluating children with low intestinal obstruction or chronic constipation since the report of Meier-Ruge et al. in 1972. But this AChE histochemical study has not been reported yet in Korea. During the 14-month period from April, 1991 through June, 1992, 37 children, aged 3 days to 17 years had rectal suction biopsies for the diagnosis or exclusion of HD. In this study, AChE histochemistry (N = 37) was compared with hematoxylin & eosin (H&E) staining of same suction biopsy specimens (N = 35) for diagnostic accuracy. The histochemical criterion used for the diagnosis of Hirschsprung's disease was that of Chow et al. (1977), i.e., the presence of many coarse discrete cholinergic fibers in the muscularis mucosae and in the immediately subjacent submucosa regardless of an infiltration of cholinergic fibers in the lamina propria. Of 13 biopsies from the patients with Hirschsprung's disease (N = 13), there were 12 positive reactions, and one false negative reaction in a neonate with total colonic aganglionosis. All biopsies from 24 unaffected children demonstrated negative reactions with no false positive reaction. In comparison, of the 35 specimens examined by H&E staining, ganglion cells were present in the submucosal Meissner's plexus only in 15 of these 24 unaffected children. In conclusion, a 97% diagnostic accuracy was achieved with AChE histochemistry compared with a 74% accuracy with H&E staining (P < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)