巨结肠类缘性疾病肛管测压、直肠黏膜活检和钡灌肠检查的意义

目的　根据病理学的诊断依据 ,评价先天性巨结肠类缘性疾病 (HAD)中直肠肛管测压、直肠黏膜活检AchE组化染色和钡灌肠检查的特点 ,了解其在诊断上的意义。方法　 1999～ 2 0 0 1年间 92例临床诊断为先天性巨结肠 (HD)或巨结肠类缘性疾病并施行手术的患儿 ,根据病理诊断排除HD和HAD共存病变病例 ,筛选出HD 4 0例 ,其中男 36例 ,女 4例 ,平均年龄 2 1个月 ;HAD 34例 ,其中男 2 1例 ,女 13例 ,平均年龄 6 3个月。研究二组的临床征候指标以及在经典的测压、组化以及钡灌肠三项检查上的差别。结果　二组病例相比 ,三项检查每项指标间都存在着极显著差异 (P <0 .0 1) :在HAD组患儿 ,85 %都存在有直肠肛管抑制反射 ,其反射波出现特征性的“W”、“U”波形 ;直肠黏膜AchE组化染色 79%为阴性 ;钡灌肠常不能发现明显的狭窄、移行段 ,但有明显的结肠扩张和2 4h钡滞留。结论　HD和HAD是都以便秘为主要表现的两种不同的疾病。经典的三联检查在HAD的诊断和鉴别上也具有重要意义     

新生儿先天性巨结肠直肠肛管压力监测及其临床意义

目的　探讨直肠肛管测压检查在新生儿先天性巨结肠 (HD)早期诊断中的应用价值。方法　对 4 2例经手术病理或直肠粘膜活检确诊的新生儿HD患儿的术前直肠肛管压力监测结果进行评价分析 ,并与X线钡灌肠进行比较。结果　直肠肛管测压 18例未出现直肠肛管抑制反射(RAIR) ,12例RAIR反射异常 ,确诊HD30例 ,诊断符合率 71 4 3%。X线钡灌肠确诊HD 5例 ,可疑HD14例 ,诊断符合率 4 5 2 4 %。直肠肛管测压阳性而钡灌肠阴性者 16例 ,钡灌肠阳性而直肠肛管测压阴性者 5例。检查结果的不同部分进行统计学处理 χm2 =4 76 ,P <0 0 5 ,差异有显著意义。结论直肠肛管压力监测在新生儿HD诊断中优于X线钡灌肠。该检查方法简单、安全、有效、无创伤性 ,可作为新生儿期怀疑HD患儿的首选检查 ,但必须结合其他检查手段才能作出确切诊断     

结肠次全切除术治疗巨结肠同源病23例

目的探讨小儿巨结肠同源病(HAD)的诊断和治疗方法。方法回顾性分析23例巨结肠同源病的病例资料,男8例,女15例,年龄5个月～16岁,其中5个月～3岁4例,3～16岁19例。患儿均以便秘、腹胀为主诉,术前常规行钡灌肠、直肠肛管测压检查。其中11例行直肠粘膜活检术;5例因肠梗阻行结肠造瘘术;3例为先天性巨结肠术后复发便秘。结果全部病例均行腹会阴Soave法结肠次全切除术。23例中,钡剂灌肠均未见明显狭窄段、移行段,24h延迟拍片提示钡剂滞留;部分病例有结肠扩张和结肠冗长表现;直肠肛管测压均有抑制反射,11例直肠粘膜活检AchE阴性。23例术后病理诊断与术前诊断一致。术后均有不同程度腹泻,1例出现伤口裂开,2例直肠粘膜脱垂,2例粘连性肠梗阻;无吻合口瘘、肌鞘感染等并发症。结论腹会阴Soave法结肠次全切除术是治疗HAD较为彻底的术式。     

临床诊断为先天性巨结肠症的肠神经元发育不良症

目的：对临床诊断为先天性巨结肠症（HD）而术后病理诊断确定为肠神经元发育不良症（IND）病例进行回顾性分析。方法：1995年1月－1999年12月140例临床诊断HD并经过根治手术患儿，其中12例（8．6％）术后病理诊断为IND，女1例，男11例，平均年龄29．28个月。结果：所有IDN患儿切除肠管病检均可发现粘膜下神经丛神经节细胞增多和巨大神经节，术前测压检查有4例，肛管直肠抑制反射（RAIR）阳性，占33．33％（4／12），直肠粘膜AchE组织化学检查有5例阴性，占41．675（5／12），而128例HD患儿则分别为15例占11．72％（15／128）和17例占13．28％（17／128），两组病例的测压和组化检查结果有明显差异，所有患儿均行手术治疗。结论：IND病例的术前检查表现为测压RAIR反射阳性率和组化检测阴性率明显高于典型HD病例；目前所沿用的测压－组化－钡灌肠诊断模式尚不能解决IND的术前诊断问题，临床及术中表现极类似地HD的病例，经典的根治术也可获得良好的治疗效果。     

直肠肛管测压对先天性巨结肠诊断价值的研究

目的 以直肠全层活检病理诊断（FTB）为金标准,X线钡灌肠（CE）为对照,探讨直肠肛管测压（ARM）对先天性巨结肠（HD）及巨结肠类源病（HAD）的诊断意义. 方法 收集2011年1月至2013年1月期间华西医院小儿外科收治的122例疑诊为HD患儿的病例资料.分析ARM诊断HD的敏感度、特异度、假阳性率、假阴性率、阳性预测值、阴性预测值、阳性似然比及阴性似然比;并以6月龄为度将病例分为大于6月龄组和小于6月龄组,采用卡方检验对两组间ARM及CE的阳性率进行相关性比较,P ＜0.05为差异有统计学意义;分析ARM对HD及HAD的鉴别特点. 结果 本组选取的所有病例均行CE、ARM及FB三项术前诊断性检查.ARM的大部分诊断指标明显优于CE,但低于两项 检查联合对HD的诊断价值.在小婴儿组（小于6月龄）中：CE的诊断价值普遍低于ARM.随着年龄的增长,CE的诊断率逐渐提高,但是仍然低于ARM.两组间CE阳性率为别为48.84％和68.35％（P=0.034）,而ARM阳性率为81.40％和83.54％（P=0.764）.HAD的ARM诊断特点：RIAR波存在,但是表现为W型、U型等异常波形. 结论 ARM对HD有肯定的诊断价值,且优于CE,两者联合,更有助于提高HD的诊断价值.ARM诊断新生儿、小婴儿HD同样较准确且稳定.HAD出现“W”或“U”为主的异型RAIR波,有助于其与HD相鉴别.     

直肠肛门抑制反射诊断先天性巨结肠符合率的临床分析

目的分析3179例便秘患儿直肠肛管测压结果,探讨直肠肛门抑制反射在先天性巨结肠诊断中的价值。方法回顾性分析2006年10月至2011年10月作者所行直肠肛门测压的3179例患儿检查资料,并与钡灌肠以及术中术后病理检查结果进行对比。结果HD患儿直肠肛门抑制反射诊断符合率为95．66％。在直肠肛门抑制反射阳性,而临床症状和体征符合HD的病例中,后经X线钡剂灌肠和直肠黏膜活检确定为常见型HD5例,短段型HD3例,特殊型HD1例。结论直肠肛门抑制反射可能存在假阳性,对假阳性病例建议重复检测,以降低漏诊率。     

直肠肛管测压对新生儿先天性巨结肠诊断意义的研究

目的探讨直肠肛管测压对新生儿先天性巨结肠(HD)的诊断价值。方法对我院2003年1月～2005年6月收治的75例临床拟诊为HD的新生儿进行直肠肛管测压,并与钡剂灌肠检查结果及病理结果进行比较。结果75例临床疑诊为HD的新生儿中,经直肠全层病理活检52例,其中48例直肠肛管测压提示HD;2例病理活检正常,其中1例直肠肛管测压未见异常,另1例直肠肛管测压提示HD;2例病理活检诊断为HD,而直肠肛管测压未见异常。本组直肠肛管测压诊断新生儿先天性巨结肠阳性率为92.3%,假阳性率为1.9%,阴性率为1.9%,假阴性率为3.8%。结论新生儿期直肠肛管测压诊断HD,方法简单、安全、无损伤,诊断特异性高。     

3月龄以上儿童先天性巨结肠81例诊治分析

目的探讨钙视网膜蛋白(Calretinin,CR)在先天性巨结肠(Hirschsprung disease,HD)诊断中的意义及经肛门直肠切除斜行吻合术治疗儿童HD的方法与疗效。方法收集2011年1月至2013年12月我们收治的81例采用经肛门直肠结肠切除斜型吻合术治疗的3月龄以上HD患儿临床资料。统计术前、术后行CR检查及病理学检查病例。对术后1~3年的81例患儿进行门诊及电话随访了解术后并发症情况,评估中远期手术疗效。结果 CR免疫组化染色与病理检查诊断HD符合率100%。81例患儿平均手术时间70.4 min,术中出血量平均为16.2 mL,术中未输血,平均住院时间7.1d。48例获随访,随访率59.3%,随访时间1~3年,无长期便秘及大小便失禁发生,污粪发生率8.3%,大便次数增多发生率12.5%,小肠结肠炎发生率4.2%。结论 CR免疫组化染色与病理检查诊断HD符合率100%,故CR可广泛应用于术前诊断及术后确诊。经肛门直肠结肠切除斜形吻合术有微创、不分离黏膜、出血少、手术时间短的优点,且完整切除全层病变的直肠与结肠,消除直肠肌鞘,术后并发症明显减少,中远期疗效满意,适于婴幼儿先天性巨结肠的治疗。     

先天性巨结肠及同源病患儿术后直肠肛管测压与分析

目的分析先天性巨结肠（HD）及同源病（HAD）术后患儿直肠肛管测压参数及其临床意义。方法对56例巨结肠术后患儿，包括32例HD和24例HAD，进行随访，并根据排便功能分为正常组、污粪组及便秘组。同时进行直肠肛管测压检查。根据不同病理分型，临床症状及随访时间比较分析测压结果。结果直肠肛管抑制反射（RAIR）重现率为55％，术后1a内RAIR重现率明显低于1a以上患儿（P〈0．05）。HD术后患儿肛管直肠蠕动频率明显大于HAD（P〈0．05）。按主观症状将患儿分为正常、污粪和便秘组，便秘组肛管／直肠静息压之比及高压带长度与前二组比较有显著差异（Pa〈0．01）。结论部分患儿术后RAIR可恢复，并与术后时间有关，HD术后肛门功能改善优于HAD。影响术后测压结果的因素是多方面的。     

54例先天性巨结肠同源病临床分析

目的：探讨先天性巨结肠同源病（HAD）的诊断、治疗及预后。方法分析2008年8月至2014年4月于本院确诊的426例先天性巨结肠（54例 HAD）患儿临床资料,所有患儿均由 BE、ARE、直肠黏膜吸引活检术等检查确诊,通过分析辅助检查结果,了解相关检查在 HAD 的特点。并对患儿近期效果进行随访。结果54例 HAD 病例约占本院先天性巨结肠症的11．3％,其中肠神经元性发育异常症25例（46．3％）;神经节减少症16例（29．6％）;神经节未成熟症13例（24．1％）。49例 HAD 患儿行钡剂灌肠检查,结果提示结肠、直肠扩张为主要表现,约28．3％的患儿结果类似先天性巨结肠症;40例 HAD 患儿行肛直肠测压,引出典型直肠肛门抑制反射 4例（10．0％）,引出变异波形18例（45．0％）,主要表现为有“M”、“U”、“W”波及波形延迟等异型波。钙视网膜蛋白（Calretinin CR）免疫组化染色检查阳性率在 HAD 为88．9％,较正常对照组显色浅,呈网状结构。19例予巨结肠根治术治疗,随访大部分患儿预后良好。结论先天性巨结肠同源病病理学特点介于先天性巨结肠症与正常之间,通过钡剂灌肠、肛直肠测压、CR 染色等相关检查综合分析可提高诊断准确率,当该病影响到患儿的生长发育及出现严重并发症时应及时手术治疗。     

Diagnosis and surgical treatment of isolated hypoganglionosis

Background

Some patients suspected with Hirschsprung’s disease (HD), however, were diagnosed as having isolated hypoganglionosis according to the updated pathohistologic methods. This study was undertaken to investigate the diagnostic methods and the therapeutic results of isolated hypoganglionosis in children.

Methods

A retrospective analysis was made on 17 patients with isolated hypoganglionosis (hypoganglionosis group) identified pathologically after operation. The data included clinical presentations, barium enema, anorectal manometry, histochemical staining for acetylcholinesterase (AChE) before operation, histological results after operation and follow-up outcomes. The data of hypoganglionosis with HD (HD group) were compared retrospectively.

Results

Common complaint of the patients with hypoganglionosis and HD was intractable constipation. Barium enema showed typical narrowing and distended segment of the colon in 9 patients in the hypoganglionosis group (9/16) and in 15 patients in the HD group (15/18). In the hypoganglionosis group, in 15 patients who underwent anorectal manometry only 5 showed absent rectal anal inhibitory reflex, significantly lower than the rate in the HD group (17/18) (P<0.05). From 16 patients in hypoganglionosis group, positive staining for AChE was noted in 3 patients (3/16, 18.8%), significantly lower than that in the HD group (16/18, 88.9%) (P<0.05). Thirteen patients in the hypoganglionosis group received subtotal colectomy, while only 5 patients needed subtotal colectomy in the HD group. In the hypoganglionosis group, except 2 patients who suffered from mild enterocolitis after operation and recovered after conservative therapy, all patients recovered uneventfully without wound dehiscence, intestinal fistula, fecal incontinence or constipation recurrence. In the HD group, one patient suffered from anastomotic leak and got secondary operation, one patient had anastomotic stricture at 1 year after operation and recovered by dilatation, and other three patients suffered from mild enterocolitis after operation and recovered after conservative therapy.

Conclusions

Hypoganglionosis is a common disease, and could be finally confirmed by full-thickness biopsies in different bowel segments. The resection range can be estimated according to barium enema and 24-hour delayed X-ray findings, by which the satisfactory result in short-term follow-up can be obtained.     

Allergic proctitis and abdominal distention mimicking Hirschsprung's disease in infants

AIM: To determine the incidence and clinical aspects of allergic proctitis (AP) in infants with symptoms that mimic Hirschsprung's disease (HD). METHODS: One hundred and five patients less than 6 months of age, who underwent barium enema, anorectal manometry and rectal suction biopsy due to suspicion of HD, were enrolled. Comparison of the patient characteristics associated with each disease was based on the results of the triple testing. The sensitivity and specificity of the three tests, for the diagnosis of HD, were evaluated. RESULTS: The mean age of enrolled patients was 2.1+/-0.9 months. Based on the three tests, 39 patients (37.1%) were diagnosed with HD, seven patients (6.7%) with AP, and 53 (50.5%) had normal results. Of the 54 patients with transitional zone and a reversed rectosigmoid index on the barium enema, four (7.4%) were patients with AP. The mean age of the AP patients (3.1+/-1.5 months old) was older than the HD children (1.4+/-0.9 months old). The sensitivity of the three tests for HD was 97.4%, 87.2% and 92.3% and the specificity was: 74.2%, 78.8% and 100%, respectively. CONCLUSIONS: In the infants with severe abdominal distention, the incidence of AP mimicking HD was relatively high. Therefore, consideration of AP should be part of the differential diagnosis in infants with severe abdominal distention or findings that mimic HD. For differentiation of these disorders, a rectal suction biopsy is very useful.     

Preliminary evaluation of anorectal manometry in diagnosing Hirschsprung’s disease in neonates

Purpose  The aim of this paper was to assess the clinical value of anorectal manometry (ARMM) in the diagnosing of Hirschsprung’s disease (HD) in neonates. Methods  From January 2003 to June 2005, 75 patients in whom HD was clinically suspected were analyzed. ARMM was performed using a desk, high rate gastrointestinal dynamic detection system and the results were compared with barium enema and rectal suction biopsy. Results  Based on rectal suction biopsies in 52 of 75 patients, the positive, false positive, negative, and false negative rates of ARMM in the diagnosis of HD in neonates were found to be 92.3, 1.9, 1.9, and 3.8%, respectively. Forty-three of 75 patients were diagnosed with HD by both ARMM and barium enema and the diagnoses were validated by pathologic results. The diagnosis of HD was excluded in 18 patients in whom HD was clinically suspected, but in whom the results of ARMM and barium enema were normal. Twelve patients who had ARMM results consistent with HD and a negative barium enema, had serial ARMM performed; a rectoanal inhibitory reflex (RAIR) was elicited in four patients, thereby excluding HD and the remaining eight patients were diagnosed with HD by review of barium enema and pathologic results. One of two patients with a positive barium enema for HD, but an ARMM showing the presence of RAIR was excluded by pathologic results and the other patient was lost to follow-up. The diagnostic accuracies of ARMM and barium enema for HD in neonates were 93.3 and 86.7%, respectively. There was no difference in rectal resting pressure and anal rhythmic wave frequency between neonates with HD and healthy neonates, but neonates with HD had higher anal sphincter pressures than healthy neonates (P = 0.0074). Conclusions  ARMM is a simple, safe, and non-invasive method with high specificity for the diagnosis of HD in neonates.     

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated together with anorectal manometric and rectal mucosal histologic studies in consideration of HD.