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。     

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。     

直肠肛管测压诊断先天性巨结肠的临床研究

应用测压检查观察50例正常新生儿的直肠肛管反射,结果96%于生后6天内出现正常反射。同时。检测156例便秘病儿,104例呈病理反射,52例为正常反射。经X线钡灌肠及手法等方法表明,先天性巨结肠的测压诊断率可达95.8%,但对新生儿的诊断率不高。因此测压检查应结合临床及其他检查作出诊断。对于特发性巨结肠与超短段先天性巨结肠,测压检查不失为有效鉴別方法。     

肠神经发育不良患儿直肠肛门测压与分析

目的分析肠神经发育不良(IND)患儿直肠肛门测压有关参数,探讨其与IND病理改变程度的关系及直肠肛门测压在IND诊断中的作用。方法对20例重型肠神经发育不良(SIND)和41例轻型肠神经发育不良(MIND)患儿及20例功能性便秘(FC)患儿同时作直肠肛门测压检查。结果SIND患儿平均发病年龄明显低于MIND及FC患儿;SIND患儿直肠肛门抑制反射(RAIR)发生率明显低于MIND及FC患儿;与MIND及FC患儿比较,SIND患儿直肠静止压、肛管静止压、肛管高压带长度及直肠顺应性之间无明显差异;但平均反射阈值、平均反射潜伏期及平均反射持续时间之间却有显著差异。IND直肠肛门测压并无特征性改变,RAIR表现为不典型松弛波,呈“W”或“V”形,其反射阈值增大,反射潜伏期及反射持续时间长,RAIR与IND病理改变程度呈相关性变化。结论结合钡灌和乙酰胆碱酯酶组织化学检查,直肠肛门测压可协助诊断IND,并可作为反应IND病理类型的一项参考指标。     

神经节细胞减少症引起新生儿急性肠梗阻的诊治

目的 了解神经节细胞减少症引起新生儿肠梗阻的诊断与治疗.方法 回顾性分析在新生儿期发生肠梗阻的11例神经节细胞减少症患儿的临床表现、术前检查及诊疗经过,并对预后进行评价.结果 6例Ⅰ期巨结肠根治术患儿中,术前行钡灌肠X线检查,4例可见狭窄段及扩张段,5例24 h钡剂排空差;肛管直肠测压检查显示,5例出现直肠肛管抑制反射,但反射阈值高于正常;直肠黏膜活检乙酰胆碱酯酶阳性4例.5例造瘘患儿,3例行Ⅱ期根治术,2例行关瘘术.所有息儿均根据术后病检结果进行诊断.所有患儿术后没有出现伤口裂开、便秘复发及大便失禁情况.结论 神经节细胞减少症可以引起新生儿肠梗阻,病检是诊断本病的可靠方法.肠造瘘解除急性肠梗阻后,如果肠道功能恢复可直接关瘘;否则需行巨结肠根治术才能达到良好的治疗效果.     

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     

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。     

神经节细胞减少症的诊断与手术治疗

目的了解神经节细胞减少症的诊断与手术治疗效果。方法对17例该病患儿进行回顾性分析及随访。结果本组17例单纯性神经节细胞减少症全部行钡灌肠X线检查,共有9例可见狭窄段、扩张段,其中2例可见明显移行段。15例行直肠肛管测压有5例未出现直肠肛管抑制反射。16例行乙酰胆碱酯酶测定仅3例阳性。多处全层活检可准确诊断该病。术后2例发生小肠结肠炎,经保守治疗痊愈。其他患儿均未出现切口裂开、肠瘘、污粪、便秘复发。结论全层活检是诊断该病的可靠方法,病变肠段切除、结肠直肠吻合术治疗本病可获满意的疗效。     

先天性巨结肠同源病:临床诊断与手术指征的确立

目的 报道一组前瞻性的先天性巨结肠同源病(HAD)临床研究总结.方法 2007年6月至2009年12月单一手术组连续行65例巨结肠根治术病例,依据临床症状、直肠肛管测压、直肠黏膜胆碱酯酶组化(AchE)组织化学染色以及钡灌肠检查做出术前诊断.先天性巨结肠症(HD)一旦确诊即有手术指征.HAD手术指征:依临床检查初步诊断后实行严格、系统的保守治疗3～6个月,经治疗无效或有效后又复发者.结果 临床初诊病例HD组为38例,HAD组为27例;术后经病理学诊断最后确诊HD组36例,HD组内有4例证实为HAD,术前误诊率为10.5%(4/38),HAD组最后病理确诊29例,HAD组内2例最后病理诊断为HD,术前误诊率为7.4%(2/27);HAD组中节细胞减少症(HG)22例(75.9%),肠神经元发育不良症(IND)7例(24.1%).HAD组27例(93.1%)存在直肠肛管抑制反射,但反射波形出现变异和延迟;AchE组化染色阳性为12例(41.4%),2项结果与HD组相比差异有统计学意义(P＜0.01);HAD病例钡灌肠检查特点:直肠高度扩张,直肠直径达盆腔的90%以上;超过90%的HAD病例有乙状结肠冗长;24 h后复查钡滞留(100%).29例HAD患儿中9例行次全切除术(31.0%),HD组36例中次全切除为8例(22.2%).结论 测压、AChE组化染色和钡灌肠检查仍是诊断HAD的重要方法.初步诊断HAD后,采取3个月到半年的严格保守治疗措施对最后确定手术指征非常重要.由于HD和HAD症状和检查结果在一定程度上相互重叠,致使HAD和HD病例术前可误诊,但这种误诊对手术指征的确定并无影响.     

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.     

Anorectal manometry during the neonatal period: its specificity in the diagnosis of Hirschsprung's disease.

In this study the reliability of anorectal manometry (ARMM) in Hirschsprung's disease (HD) in the neonatal period is evaluated. ARMM was performed in 59 patients (age ranging between 2 to 90 days) in whom HD was suspected. Rectal biopsy was performed in 23 newborn whose rectoanal inhibitory reflex (RAIR) was not identified in the ARMM study and in 13 RAIR-positive newborn due to strong clinical signs supporting HD or persistence of symptoms during their follow-up. Other RAIR-positive patients were followed up to 4 months to 3.5 years and no problems were encountered. Among the 36 newborn with rectal biopsies, if the results were compared to ARMM studies, there were one false-positive and two false-negative results. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of ARMM in the diagnosis of HD are 91.6%, 95.6%, 84.6% and 91.6% respectively. We conclude that ARMM can be used as a screening test in patients in whom HD is suspected during the neonatal period, but for definitive diagnosis it must be combined with other diagnostic tests.     

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.     

Anorectal manometry for the exclusion of Hirschsprung's disease in neonates

We studied the usefulness of anorectal manometry in excluding Hirschsprung's disease in 25 neonates with signs and symptoms of intestinal obstruction. An intraluminal pressure transducer or perfused side-opening catheters were used to evaluate anal tone, anal rhythmicity, and internal sphincter relaxation during rectal distention. Hirschsprung's disease was diagnosed by rectal biopsy in 16% of the neonates. Studies using anorectal manometry gave one false positive and one false negative diagnosis of Hirschsprung's disease, which resulted in 75% sensitivity, 95% specificity, and a kappa coefficient of 0.7. We found that anorectal manometry, a rapid and atraumatic test, is a reliable screening test for exclusion of neonatal Hirschsprung's disease. By using the combination of manometry and contrast enema, it is possible to eliminate the need for a confirmatory rectal biopsy in many neonates suspected of having Hirschsprung's disease.     

Pitfalls and limitations of testing the rectoanal inhibitory reflex in screening for Hirschsprung's disease

Problems in testing the absence or presence of the rectoanal inhibitory reflex (RAIR) were analyzed in 261 consecutive patients referred to confirm or exclude Hirschsprung's disease. Confident interpretation of the manometric record was possible in 89% of the cases. False results were observed in 9 patients (4%): false-negative tests (the presence of Hirschsprung's disease could not be identified) in 2 and false-positive tests (inability to induce a RAIR in patients who turned out not to have Hirschsprung's disease) in 7. In 11% the manometric result was equivocal. The value of anorectal manometry was most limited below the age of 1 month.Equivocal and false manometric results can be limited by: (1) avoiding anal stretching just before manometry; (2) avoiding restlessness during the examination; (3) leaving the catheter of the rectal distending balloon unfixed; (4) exact positioning of the pressure-recording devices in the anal canal; (5) regular checks of the position of the distending and recording devices; (6) distending the rectal ampulla until the rectal sensation level is reached; and (7) strict application of the characteristic features of a normal RAIR during analysis, i.e. a reproducible and progressive anal pressure decrease followed by recovery of the basal tone or transient inhibition of anal pressure waves induced by rectal distension. While a rectal biopsy remains the golden standard for final diagnosis, anorectal manometry is preferable for screening but should be complemented by biopsy if the first examination is equivocal, if the RAIR is absent, or when the clinical condition an/or the result of contrast enema conflict with a negative manometric test. A high degree of manometric accuracy can be reached after adequate initiation, as evidenced by the comparable performances of the five examiners in this study with different degrees of expertise. Offprint requests to: F. Penninckx     

Anorectal manometry in newborns

Anorectal manometry was performed in 32 neonates: 18 pre-term and 14 full-term infants, mean ages 6.1 and 7.1 days, respectively. The rectoanal inhibitory reflex (RAIR) was positive in 31 cases, and the relaxation waves produced by rectal distention were recorded along the anal canal and were directly related to the intensity of the stimulus. In the remaining patient the RAIR was negative due to Hirschsprung's disease. The length of the anal canal was 11.3 ± 2 mm in pre-term and 14.7 ± 2.9 mm in full-term infants (P < 0.001). These findings suggest that the presence of a RAIR is independent of the weight, gestational age, and birth age of the infant, and that anal canal length correlates with weight. We conclude that anorectal manometry in the neonatal period is a simple, reliable, and safe method of testing anorectal function, including the diagnosis of Hirschsprung's disease.