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© Borgis - Nowa Medycyna 2/2017, s. 59-72
*Marta Zelga1, Piotr Zelga2, Adam Dziki2, Anna Piaseczna-Piotrowska1
Hirschsprung disease in children and adults – updates on clinical knowledge for general surgeons
Choroba Hirschsprunga u dzieci i dorosłych – kompendium wiedzy dla chirurga ogólnego
1Department of Pediatric Surgery, Urology and Transplantology, Polish Mother’s Memorial Hospital Research Institute in Łódź
Head of Department: Professor Anna Piaseczna-Piotrowska, MD, PhD
2Department of General and Colorectal Surgery, Medical University of Łódź
Head of Department: Professor Adam Dziki, MD, PhD, FACS, FACRS
Choroba Hirschsprunga (HD) jest wrodzoną wadą przewodu pokarmowego, rzutującą na dalsze życie chorego. Od czasu pierwszych doniesień w XIX wieku, odnotowano znaczny postęp w zrozumieniu neuropatologii tej choroby i skutecznym leczeniu w okresie wieku dziecięcego i u dorosłych. Wprowadzono techniki małoinwazyjne, zredukowano liczbę operacji do jednego etapu z dostępu kroczowego oraz skutecznie leczy się powikłania, z których najbardziej poważnym pozostaje pooperacyjne zapalenie jelita cienkiego i okrężnicy związane z chorobą Hirschsprunga (HAEC). Przezodbytnicza resekcja odcinka bezzwojowego (TEPT) stała się dominującą metodą leczenia z uwagi na: techniczną łatwość zabiegu, dostęp kroczowy i uzyskiwane dobre wyniki czynnościowe. Stosowanie tej metody wiąże się jednak z większym ryzykiem występowania HAEC. HD może również występować u dorosłych, sprawiając istotne trudności diagnostyczne. Pacjenci skarżą się na przewlekłe zaparcia oraz bóle brzucha. W przypadku stwierdzonej HD u dorosłych operacja sposobem Duhamela jest leczeniem z wyboru, a w niektórych przypadkach można stosować miotomię przezodbytniczą. W celu zmniejszenia chorobowości i śmiertelności po zabiegach stosowanych w leczeniu HD zarówno u dzieci, jak i u dorosłych zaleca się centralizację leczenia w dużych ośrodkach z powodu trudnego procesu diagnostycznego i zaawansowanych technik operacyjnych.
Hirschsprung’s disease is a congenital disorder of the gastrointestinal duct with lifelong consequences. Since the first reports on the disease in the XIX century, significant progress has been noted in the understanding of the neuropathology of this disease, as well as in the effective treatment in new-borns, children and in adults. Minimally invasive techniques have been introduced, the number of surgical operations has been reduced to one stage with perineal access and there is effective treatment of complications, of which post-operative inflammation of the small intestine and of the colon associated to Hirschsprung’s disease remains the most serious one. Transanal resection of the aganglionic section (TEPT) has become the dominant method of treatment due to the technical easiness of the procedure, perineal access and the obtained good functional results. However, the application of this technique is associated with a higher risk of the occurrence of HAEC. HD may also occur in adults causing significant diagnostic difficulties. The patients complain of chronic constipations and abdominal pain. In case of diagnosing HD in adults an operation performed using the Duhamel technique is the treatment of choice and in selected cases transanal myotomy may be applied. In order to reduce the morbidity and mortality after the procedures applied in the treatment of HD both in children and in adults it is recommended to centralize treatment in big centres due to the difficult diagnostic process and advanced surgical techniques.
Hirschsprung’s disease is a congenital functional disorder of gastrointestinal motility resulting from the absence of ganglions in the enteric nerve plexus starting from the internal anal sphincter and extending proximally to a various length of the intestine. The aganglionic section is contracted and it constitutes a mechanical barrier for the propulsion of intestinal contents. This disorder is the result of the stopping of the migration of primary nerve cells coming from the neural crest in early fetal life, which may be caused by genetic factors (RET, GDNF genes etc.), the incorrect structure of the extracellular matrix proteins (fibronectin, laminin etc.), a deficiency of neurotrophic factors (NGF, NT-3 etc.) and of cell adhesion molecules (NCAM, LiCAM). Most frequently the changes are limited to the rectum and the sigmoid colon (75% of cases). Less frequently aganglionosis reaches the splenic flexure (15%). In 6% of cases there is a lack of autonomic innervation in the whole large intestine (TCA – total colonic aganglionosis). The disease may also sporadically affect the whole small intestine and even the duodenum. There are also reports of the ultra-short form of the disease affecting only a 2-3 cm section of the rectum above the pectinate line. In 70% of cases the disease occurs as an isolated anomaly, in the remaining cases it frequently constitutes a component of syndromes, e.g. the Down syndrome, the Wardenburg syndrome. According to the data of the European Surveillance of Congenital Anomalies (EUROCAT) gathering registers of congenital anomalies from 31 European countries, the prevalence of the disease is estimated to be 1.09 in 10 000 childbirths with the observed trend towards higher prevalence during the last 20 years (1). On the basis of the statistical data of the Polish Registry of Congenital Malformations covering the years 2005-2006 in Poland 25 cases of the disease were reported (0.4/10 000 childbirths) including 1 in the Łódź Voivodship (0.2/10 000 childbirths) (2). However it is believed that the scale of prevalence of this disease is much higher. In 80% of cases this disease is diagnosed during the first year of life. In the period of puberty and adulthood it is rare (most frequently it is the ultrashort form of the disease). Children with a suspicion of HD are most frequently referred to multi-specialty paediatric centres offering the possibility of appropriate diagnostics and surgical treatment. Depending on the clinical condition, the possibility of the occurrence of complications resulting both from the nature of this anomaly and from the applied treatment, postsurgical supervision usually lasts for 3 years or more and regular follow-up appointments should be held until reaching adulthood. In adulthood patients are usually referred to a Gastroenterological or Surgical Clinic due to ailments such as faecal incontinence or constipations. These Clinics are also places where patients with undiagnosed congenital aganglionosis are referred to – these are often patients who for years were treated for chronic constipations, recurrent abdominal pain or the symptoms of the irritable bowel. Patients with acquired aganglionosis (Chagas’ disease) are very rare.
Clinical symptoms of HD
Ca. 80-90% of children with HD show symptoms already in the neonatal period. These are: delayed expulsion of meconium occurring later than in the 24th hour of life, constipations, abdominal distension, periodically recurrent diarrhoea (enterocolitis). These symptoms may be the cause of septicaemia and may directly threaten the life of the new-born child. The main symptoms are chronic constipations resistant to conservative treatment, abdominal distensions, gradual delay in the physical development of the child. An element which draws attention in the per rectum examination is the empty contracted rectal ampulla. Unexplained perforations of the intestine in the absence of inflammatory changes of the intestinal wall, especially the cecum, may cause the suspicion of HD.
Adult patients complain mainly of constipations which – to a varying extent – persist since childhood and do not regress after the applied conservative treatment. This is accompanied by abdominal distension (83-86%) and periodical abdominal pain (40-80%), especially in case of long periods between defecations. Patients take laxatives chronically or do enemas on themselves (3). In contrary to the case of children, faecal incontinence in adults is a rare symptom of HD. The disease may also be manifested through the occurrence of “acute” surgical diseases such as the obstruction of the gastrointestinal tract, toxic megacolon or the intussusception of the sigmoid colon (4, 5).
In paediatric surgery suction biopsy of the rectum currently constitutes the basic method of taking biopsy specimens from the rectal mucosa or submucosa aimed at confirming or excluding the occurrence of Hirschsprung’s disease. It is also the basis for the qualification for surgical treatment applying the TEPT method. The condition for reliable assessment is taking a bioptate of appropriate size (material sufficient for performing ca. 100 cross-sections), appropriate thickness (containing the submucosa) and appropriate location (0.5-1.5 cm over the pectinate line depending on the child’s age). Currently, due to the risk of complications and the necessity to apply anesthesia to the child, surgical biopsy is performed rarely (6). During laparoscopy/laparotomy in turn bioptates are taken in order to determine the extent of aganglionosis. The presence of ganglion cells and the occurrence of hypertrophy of nerve fibers are determined in the taken bioptate. Various types of histochemical and immunohistochemical examinations of the histological specimens of the taken bioptates are performed applying reagents (such as eosin and haematoxylin, acetylcholinesterase, lactate dehydrogenase and succinate dehydrogenase, NADPH-D) or antibodies (calretinin, PGP9.5, peripherin, Substance P, NO-synthase etc.). A characteristic feature of the HD image is the absence of nerve cells and nervous ganglions in the enteric nervous plexus and the hypertrophy of nerve fibers in the intestinal wall. The sensitivity and specificity of the suction biopsy in the diagnostics of Hirschsprung’s disease is determined respectively at: 97-100% and 99-100% and the risk of complications is lower than 1% (7-10).
Anorectal manometry and radiological examinations play a supplementary role in making the diagnosis but their sensitivity and specificity is significantly lower than in the case of biopsy. The manometric examination is performed mainly in order to determine the presence of the relaxation reflex of the internal anal sphincter which develops in the first month of life. The lack of relaxation of the sphincter in response to the pressure increase in the rectal ampulla is characteristic for Hirschsprung’s disease. The sensitivity and specificity of this method are assessed to be 75-100% and 85-97% (11, 12).
Radiologic studies are often performed first due to their low invasiveness and availability. A plain X-ray of the abdominal cavity in a hanging position allows for demonstrating distended loops of the large intestine, the presence of air-fluid levels. Lower gastrointestinal series displays the funnel-shaped area of the transition zone – the “cone-shape syndrome” at the border between the ganglionic intestine and the contracted aganglionic intestine. A late X-ray image after 24 hours displays the retention of the contract medium in the distal section of the intestine. The contrast examination is performed without the prior preparation of the intestines and its sensitivity and specificity differ depending on the length of the aganglionic fragment of the intestine and the age of the patient (70 and 83%) (13). Lower sensitivity and specificity of the examination is observed in case of short aganglionic sections and in neonatal age in which the transition zone is less developed (14).
Operational treatment in children
Operational treatment is the only method which gives a chance for curing the patient (15). The idea of the operational treatment of Hirschsprung’s disease is based on cutting out the aganglionic section of the intestine, bringing the nerved intestine closer to the distal part of the rectum (pull-through) and joining them together as close as possible to the anus (anastomosis).
The first successful operation based on the removing of the aganglionic part of the intestine and pulling the healthy fragment through the everted rectum was performed by Swenson and Bill in 1948. From that time new techniques were developed; they differed from the first operation which was also further modified. The surgical treatment of HD was primarily composed of three stages of the operation, i.e. forming a stoma above the transition zone, performing the repair surgical procedure and next closing the colostomy. Currently there is a strive to reduce the number of planned interventions aiming at performing one-stage interventions. Such procedure is becoming more and more common and the results are comparable or better than in case of multi-stage operations (16-18). However performing a diverting colostomy is still recommended in children with acute inflammation of the intestines related to Hirschsprung’s disease (HAEC), malnutrition or a high risk of perforation e.g. as a result of intestine distension (5). The most frequently applied surgical techniques have been presented in table 1.
Tab. 1. The operational techniques most frequently applied in children with Hirschsprung’s disease
|Type of operation||Swenson||Duhamel||Soave||Rehbein||TEPT|
|Procedure description||– intra-abdominal resection of the aganglionic intestine|
– preparating and mobilisation of the rectum
– eversion of the rectum outside through the anus
– pull-through of the ganglionic intestine through an incised rectal wall
– anastomasis of the pulled-through intestine with the rectal wall
|– the resection of the closer part of the aganglionic intestine|
– transanal anastomasis of the nerved intestine with the back wall of the rectal stump using a stapler
|– mucosectomy of the aganglionic section of the intestine|
– pull-through of the healthy intestine through the cuff
– anastomasis with the anus ca. 1 cm above the pectinate line
|– resection of the aganglionic section of the intestine with leaving a ca. 4 cm aganglionic fragment in the retroperitoneal area|
– colorectal anastomasis performed using a stapler
|– transanal removal of the aganglionic section|
– pull-through of the nerved intestine from the abdominal cavity through the left muscular cuff of the distal part of the rectum
– anastomatis of the pulled-through intestine with the mucosa of the anal canal just above the pectinate line
|Number of stages of the procedure||1-3||1-3||1-3||1-3||1-3|
|Operational access||abdomino-perineal||abdomino-perineal or pull-through||perineo-abdominal or pull-through||abdominal||perineal|
|Frequency of feacal incontinence||3.2-19.5%||0-27%||2.1%||8.9%||0-21%|
The results of surgical treatment depend on many factors including the experience of the operator, the type of the anomaly – especially the length of the aganglionic section, postoperative complications and the commitment of the patient’s carers or the patient him- or herself to the solicitude of regular defecation. Also other factors affecting the treatment results have been identified. These are: male sex, accompanying congenital defects of the central nervous system, meconium ileus and the occurrence of intestine inflammation before applying operative treatment (19).
The method of choice in case of operating children with a classic form of HD is the transanal resection of the aganglionic section (Transanal Endorectal Pull-Through – TEPT). The mentioned operation is derived from the Soave technique. It has been modified by de la Torre and Ortega (20). The essence of the surgery is the removal of the aganglionic section with transanal access through the incision of the rectal mucosa ca. 1 cm above the pectinate line and the preparation of tissues until the peritoneal fold where next the rectal wall is circularly incised which grants access to the abdominal cavity. The result of the pulling-through of the preparated intestine and the gradual ligation of its mesentery is the gradual transanal mobilization and the pulling out of successive sections of the distal intestine. The intraoperation examination of the bioptates from the wall of the intestine which is pulled through allows for identifying the height of the aganglionic zone, transitional ganglionic. The aganglionic intestine is resected and the nerved intestine pulled through the maintained muscular cuff of the distal part of the rectum becomes joined with the mucosa of the anal canal just above the pectinate line. The advantage of this method is the possibility to perform surgery solely from perineal access without the necessity for laparotomy or laparoscopy. Due to this reason the time of surgery is shorter than in case of other methods and the cosmetic effect is better. However, the dissemination f this method indicated a number of problems with determining the exact location and the length of the transition zone before the mobilization of the intestine as well as the effect of prolonged extension of the anal sphincter muscles on the contraction function after the operation. Due to this fact many centres have introduced a modification of this method applying laparoscopic access in order to minimize the above mentioned difficulties. The meta-analysis performed by Thomson et al. comparing the classical TEPT with its laparoscopic variant did not show a statistically significant difference between the results of treatment and the frequency of postsurgical complications (mainly intestine inflammation, twisted bowels, faecal incontinence and chronic constipations) between the two methods although the comparison was based on the results of retrospective studies (21). A similar comparison was performed by van den Ven et al. who compared both methods applied in two academic teaching hospitals in the Netherlands (22). This study also did not find differences in the number of early and late complications nor functional results. It was however observed that the macroscopic assessment of the intestine during laparoscopy allows for the resection of a shorter intestinal fragment due to the better vitalization of the transitional zone. This is however performed at the expense of a longer time of surgery (by average by 109 minutes) with the lack of clear recommendations related to the amount of intestine necessary for resection above the transition zone. Due to the above mentioned advantages TEPT is currently the method of choice in case of surgeries on new-borns and infants mainly due to the possibility to perform this surgery among the mentioned age group without applying colostomy and opening the abdominal cavity (23).
Postoperative complications resulting from the nature of HD
Chronic constipations, HAEC and faecal incontinence are the most frequent postoperative complications in children with HD. These complications more frequently occur in the first postoperative months and over time the frequency of their occurrence and their intensity decrease. Other more rare complications include: adhesive bowel disease and urologic complications such as urinary incontinence. The functional dysfunction of the urinary bladder observed in some patients may be the consequence of the bladder neck compression by the stool masses accumulated in the megarectum. Death after HD repair surgery occurs rarely and is usually the consequence of the failure of the treatment of complications such as e.g. sepsis associated to enterocolitis, intestinal obstruction or failure in the treatment of total colonic aganglionosis (24).
Chronic constipations occur in ca. 33% of children in the first months after repair surgeries performed due to HD. In the later period the frequency of the occurrence of this disease decreases to 9%. These constipations may be the consequence of the incomplete resection of the aganglionic intestine, dysganglionosis, anal sphincter achalasia and stenosis in the place of anastomosis. Incomplete resection of the aganglionic intestine is most frequently the result of incorrect intraoperative anatomopathological evaluation of the taken bioptates. Internal anal sphincter achalasia is a disorder resulting from the excessive tension of this sphincter and the lack of ability to relax it. It constitutes the cause of constipations in the postoperative period in ca. 5-32% patients with HD. The frequency of occurrence of this complication decreases over the years.
The most important postoperative complications include Hirschsprung associated enterocolitis (HAEC). It is the main cause of mortality in HD and it may also occur before the surgical treatment or it may precede the diagnosis of HD (6-26%). The frequency of occurrence of this complication after an operation performed applying perineal access is reported to be between 5-42% and is more frequent than in case of operations applying perineo-abdominal or abdominal access (25). The pathomechanism of this disease has not been fully understood yet. The reason for recurrent acute intestine inflammations after radical HD surgery should be sought in the nature of the disease itself which is abnormal innervation because changes in the distribution of many neurotransmitters are also described in the ganglionic intestine. Another proposed theory suggests that the presence of postoperative intestinal stenoses (insufficiency of the anastomosis, adhesions) or the non-radicalness of the surgery lead to the stasis of intestinal content, bacterial flora overgrowth and its translocation (26, 27). Such stenoses increase the risk of HAEC about three times (15, 25). The symptoms of HAEC are fever, malodorous stools of a diarrheal nature and significant abdominal distension leading to the fast deterioration of the general condition of the patient. The symptoms of paralytic ileus occur in children. The treatment is based on fluid resuscitation, antibiotic therapy and the decompression of the large intestine using a probe and enemas. In adult patients the clinical image and the radiological image cannot be differentiated from mechanical obstruction of the lower part of the gastrointestinal tract (comprising the further section of the small intestine (the ileum) and the large intestine). The most important activity then is the inserting a probe into the rectum which causes rapid excretion of malodorous liquid content and allows for excluding the necessity for laparotomy. Differentiating between these two conditions is of particular significance in adults who had undergone surgery due to Hirschsprung’s disease in childhood because unnecessary laparotomy would only worsen the patient’s condition. In case of recurrent episodes of HAEC in patients with a diagnosis of internal anal sphincter achalasia conservative treatment needs to be considered with periodically repeated divulsion of the anus, injecting botulinum toxin into the internal anal sphincter and in very severe cases – partial myotomy of the rectal muscles (POMM). Although this is related to the higher risk of faecal incontinence, especially in case of an incision above the internal anal sphincter muscle, in the period of ca. 2 years after the operation the functional results remain good (28). Further understanding of the pathomechanism of the disease may lead to identifying patients of higher risk and performing a preventive extension of the anastomosis.
Faecal incontinence or to be precise the so called soiling, especially with liquid faecal matter in children after a HD operation is usually the consequence of the accumulation and retention of frequently compact faecal masses in a reservoir formed from the aganglionic section of the intestine which had been leaven. Other significant factors include: the damage or too weak tension of the external anal sphincter, performing a too low anastomosis of the pulled-through loop of the nerved intestine with the rectal mucosa (below Morgagni’s columns) or intraoperative damage to the pelvic nerves.
Long-term treatment results
The assessment of the results of treatment may differ when looking from the perspectives of the surgeon and the patient. The fact that is interesting is that patients usually assess the functional results and the quality of life better than surgeons (29). Patients who are used to burdensome symptoms and faecal incontinence in childhood assess their continence better than it may be concluded directly from the assessment performed basing on Wexner’s scale. The surgeons in turn often are not fully aware of the impact this disease has on the patient’s everyday life and its quality (30). Despite of this long-term treatment results come over time passing from the surgery (31, 32). This refers to both the typical form of the disease as well as that affecting the whole large intestine.
The elements which are mainly taken into consideration in the assessment of long-term treatment results are faecal incontinence and constipations. In case of children with HD faecal incontinence after the surgery is considered to be a postoperative complication. In case of TEPT, due to only perineal access, many analyses have been carried out aiming at determining whether it is related to a higher risk of faecal incontinence. The majority of the comparisons carried out until now demonstrated that the function of the sphincter apparatus was not worse or it was better which indicated that its damage during TEPT is rare (33-36). While comparing TEPT with LEPT (TEPT with the mobilisation of the large intestine through laparotomy) Stensrud et al. observed the frequent occurrence of underwear soiling in both types of surgery, i.e. 54 and 58% of patients in particular groups (36). The authors suggested that this may not be associated with the operational techniques themselves, but with their learning curve and the rare performance of these procedures in smaller centres.
Due to the fact that worse long-term results were not demonstrated after the TEPT surgery further studies were performed in order to answer the question whether modifications within the TEPT technique itself affect the long-term treatment results. Oh et al. examined the differences in the frequency of defecation between the two groups of patients in whom anastomosis was performed at 2 and 15 mm from the pectinate line after performing LATEPT. During patient observation which lasted for ca. 40 months less defecations were observed in the group of patients in which the anastomosis was performed higher (3.77 in the first group vs 2.0 in the second one after 2 years (p = 0.035) and 3.92 in the first group vs 1.29 in the second one after 3 years (p = 0.009)) (37).
Due to the fact that the TEPT method became more common in the late 90’s of the XX century most studies cover a period of maximally 10 years after the operation. The assessment of the quality of life of patients in further years after the TEPT operation shall therefore only be the object of further research. Also the influence of the more frequent occurrence of HAEC in case of TEPT on long-term treatment results should be investigated more thoroughly.
In case of operations performed earlier long-term treatment results in a wider time perspective are also rare. Survey studies held by Jarvi et al. examined patients who were subjected to surgery due to HD in Finland in the years 1950-1986 (38). The majority of patients were operated applying the Duhamel technique and in the moment of evaluation they were by average 43 years old. On the basis of the obtained answers the authors indicated aging as the independent factor affecting the worse function of the sphincter apparatus. The remaining functions of the digestive system did not differ significantly from those of the patients in the control group.
Hirschsprung in adulthood
The disease frequency among adults is not known, especially that a high percentage of HD cases is not diagnosed or is diagnosed incorrectly in this age group. Usually patients come to a physician after many years of constipations requiring the constant application of laxatives, sometimes with the accompanying symptoms of faecal incontinence. Such patients are diagnosed with colonic inertia. However it is necessary to distinguish between true colonic inertia and non-diagnosed Hirschsprung’s disease. Colonic inertia includes constipations resulting also from reasons other than the aganglionosis of an intestinal section, i.e. dietary reasons (a bad diet), psychological or iatrogenic reasons (drugs). The disease may also manifest itself in the form of sudden megacolon toxicum requiring urgent surgery (4). In cases of the suspicion of Hirschsprung’s disease it is advised to perform anorectal manometry, in which the lack of the relaxation reflex of the internal anal sphincter muscle may confirm such a diagnosis. It is then necessary to perform a full thickness biopsy of the rectum in order to verify the presence of changes typical for HD. Due to the poor availability of anorectal manometry in Poland and after taking into consideration its sensitivity and specificity in diagnosing HD many cases still remain undiagnosed. If in the examination of the passage through the digestive tract the transit time of markers exceeds 72 hours the patients are qualified for complete colonic excision with subsequent ileorectal anastomosis. Numerous studies have demonstrated that this is an operation of choice in the treatment of colonic inertia, although it is burdened with complications including mortality (39-42). The remaining problems are also the functional results and the quality of life of patients. Even up to 33% of patients may complain of persistent constipations and abdominal pain ailments persist in 44% of patients. The frequency of defecations ranges from 2 to 6 per day and diarrhoea usually resolves within a month from surgery. In case of persistent diarrhoea resistant to conservative treatment the formation of an ileostomy or a J-Pouch reservoir is taken into consideration. While making such decisions one should also be guided by the occurrence of symptoms of faecal incontinence occurring by average in 14% of patients, which may additionally deteriorate the quality of life. In this case the patients decide to form an ileostomy. This situation usually refers to 5% of operated patients but there have also been reports of the necessity to form an ileostomy in 28% of patients (43).
The available literature describes ca. 229 cases of HD in adulthood since 1950; these were more frequently male (76%) than female (24%) patients. The mean age of the operated patients was 24 (range 18-73). In case of obtaining the confirmation of HD surgeons perform interventions which are recognized in the treatment of HD, e.g. the modified surgery performed applying the Duhamel technique or Rehbein’s procedure. Vorobyov et al. analysed 90 cases of the disease in patients aged from 14 to 47 (median 24). The surgery applying Duhamel’s technique was performed in 90% of patients, with the achieving of good functional results, in 84% if the aganglionic section was limited to the sigmoid colon/rectum. In cases of a more extensive aganglionic section long-term treatment results were somewhat worse, i.e. 66% assessed the functioning of the intestines and of the sphincter apparatus well (44). The authors confirm that the operation of choice in case of HD in adults is the operation performed applying the Duhamel technique. In comparison to other operations one can observe less frequent occurrence of impotence, of leaking anastomosis and the advantages of the presence of the intestinal reservoir in the limiting of soiling underwear (45-47). Qiu et al. presented four cases of HD in adult female patients (age between 55 and 67) treated in the Surgical Department due to toxic megacolon, severe abdominal pain ailments and symptoms of subileus.
Two patients had earlier laparotomies due to intestinal obstruction (ileus) after which the ailments returned. The patients were subjected to anterior resection of the rectum or colectomy with ileorectal anastomosis and postoperative complications were not observed (48). Recently there has been a report describing myotomy of the intestinal section affected by the disease performed using an endoscope. The authors of this technique applied the assumptions of the endoscope method used in the treatment of esophageal achalasia and modified it in order to apply it in a 24 year old patient with a diagnosis of Hirschsprung’s disease of the distal section of the large intestine who did not provide consent for operational treatment. Ca. 20 cm of intestinal muscles were incised (including 15 cm of the section affected by the disease) without observing postoperative complications. After 24 weeks better function of the sphincter apparatus and significantly less frequent constipations were observed (49). The authors suggest that maybe in the future this may be the method of choice in adult patients with HD allowing for avoiding operative treatment and the complications related to it.
In the last two decades an increased incidence of Hirschsprung’s disease has been observed both in congenital anomaly syndromes and as an isolated anomaly. Significant progress in the understanding of the pathomechanism of this disease as well as of the complications accompanying it suggests a wider pathological background of changes in the large intestine, not limited only to the absence of ganglion cells in the scope of the Auerbach and Meissner ganglions. Significant progress in the surgical treatment of children with HD allowed for limiting the number of procedures to one and obtaining an acceptable quality of life enabling normal functioning in the society also in adulthood. Wider recognition of the TEPT method, as well as of its modifications taking into consideration especially laparoscopic assistance, as the treatment of choice in children with HD, especially in the group of newborns, has drawn attention to the problem of the learning curve in case of this procedure, as well as its influence on early and long-term treatment results. Due to this reason the centralization of care in centres with big experience and a high number of performed procedures is recommended more and more frequently.
1. EUROCAT Central Registry: EUROCAT Statistical Monitoring Report – 2012. 28th February 2015: 1-223.
2. Latos-Bieleńska A, Materna-Kiryluk A: Wrodzone wady rozwojowe w Polsce w latach 2005-2006. Dane z Polskiego Rejestru Wrodzonych Wad Rozwojowych. Ośrodek Wydaw. Nauk., Poznań 2010.
3. Miyamoto M, Egami K, Maeda S et al.: Hirschsprung’s disease in adults: report of a case and review of the literature. J Nippon Med Sch 2005; 72(2): 113-120.
4. Lopez Ruiz JA, Tallon Aguilar L, Sanchez Moreno L et al.: Hirschsprung disease with debut in adult age as acute intestinal obstruction: case report. Rev Esp Enferm Dig 2016; 108(11): 742-746.
5. Tan FLS, Tan Y-M, Heah SM, Seow-Choen F: Adult Hirschsprung’s disease presenting as sigmoid volvulus: a case report and review of literature. Tech Coloproctol 2006; 10(3): 245-248.
6. Lorijn F, Kremer L, Reitsma J, Benninga M: Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr 2006; 42(5): 496-505.
7. Lewis NA, Levitt MA, Zallen GS et al.: Diagnosing Hirschsprung’s disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg United States 2003; 38(3): 412-416.
8. Friedmacher F, Puri P: Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications. Pediatr Surg Int Germany; 2015; 31(9): 821-830.
9. Tran VQ, Lam KT, Truong DQ et al.: Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung’s disease. J Pediatr Surg United States 2016; 51(12): 2005-2009.
10. Hayes CE, Kawatu D, Mangray S, LeLeiko NS: Rectal Suction Biopsy to Exclude the Diagnosis of Hirschsprung?s Disease. J Pediatr Gastroenterol Nutr 2012; 55(3): 1.
11. Keshtgar AS, Ward HC, Clayden GS: Pathophysiology of chronic childhood constipation: functional and morphological evaluation by anorectal manometry and endosonography and colonic transit study. J Pediatr Surg United States 2013; 48(4): 806-812.
12. Tang Y-F, Chen J-G, An H-J et al.: High-resolution anorectal manometry in newborns: normative values and diagnostic utility in Hirschsprung disease. Neurogastroenterol Motil England 2014; 26(11): 1565-1572.
13. Haricharan RN, Georgeson KE: Hirschsprung disease. Semin Pediatr Surg United States 2008; 17(4): 266-275.
14. Taxman TL, Yulish BS, Rothstein FC: How useful is the barium enema in the diagnosis of infantile Hirschsprung’s disease? Am J Dis Child United States 1986; 140(9): 881-884.
15. Zani A, Eaton S, Morini F et al.: European Paediatric Surgeons’ Association Survey on the Management of Hirschsprung Disease. Eur J Pediatr Surg Off J Austrian Assoc Pediatr Surg = Zeitschrift fur Kinderchirurgie United States 2017; 27(1): 96-101.
16. Langer JC, Fitzgerald PG, Winthrop AL et al.: One-stage versus two-stage Soave pull-through for Hirschsprung’s disease in the first year of life. J Pediatr Surg United States 1996; 31(1): 33-37.
17. Shankar KR, Losty PD, Lamont GL et al.: Transanal endorectal coloanal surgery for Hirschsprung’s disease: experience in two centers. J Pediatr Surg United States 2000; 35(8): 1209-1213.
18. van der Zee DC, Bax KN: One-stage Duhamel-Martin procedure for Hirschsprung’s disease: a 5-year follow-up study. J Pediatr Surg United States 2000; 35(10): 1434-1436.
19. Pini Prato A, Gentilino V, Giunta C et al.: Hirschsprung disease: do risk factors of poor surgical outcome exist? J Pediatr Surg United States 2008; 43(4): 612-619.
20. De la Torre-Mondragon L, Ortega-Salgado JA: Transanal endorectal pull-through for Hirschsprung’s disease. J Pediatr Surg United States 1998; 33(8): 1283-1286.
21. Thomson D, Allin B, Long A-M et al.: Laparoscopic assistance for primary transanal pull-through in Hirschsprung’s disease: a systematic review and meta-analysis. BMJ Open England 2015; 5(3): e006063.
22. van de Ven TJ, Sloots CEJ, Wijnen MHWA et al.: Transanal endorectal pull-through for classic segment Hirschsprung’s disease: with or without laparoscopic mobilization of the rectosigmoid? J Pediatr Surg United States 2013; 48(9): 1914-1918.
23. Czauderna P, Żakowiecka A, Królak M, Komasara L: Przezodbytnicza endorektalna operacja sprowadzenia jelita grubego (TEPT) w chorobie Hirschsprunga – doświadczenie wstępne na gruncie polskim na podstawie 7 leczonych pacjentów. Pediatr Współczesna Gastroenterol Hepatol i Żywienie Dziecka 2006; 8(3): 183-187.
24. Pini Prato A, Rossi V, Avanzini S et al.: Hirschsprung’s disease: what about mortality? Pediatr Surg Int Germany 2011; 27(5): 473-478.
25. Demehri FR, Halaweish IF, Coran AG, Teitelbaum DH: Hirschsprung-associated enterocolitis: pathogenesis, treatment and prevention. Pediatr Surg Int 2013; 29(9): 873-881.
26. Coran AG, Teitelbaum DH: Recent advances in the management of Hirschsprung’s disease. Am J Surg United States 2000; 180(5): 382-387.
27. Hackam DJ, Filler RM, Pearl RH: Enterocolitis after the surgical treatment of Hirschsprung’s disease: risk factors and financial impact. J Pediatr Surg United States 1998; 33(6): 830-833.
28. Wildhaber BE, Pakarinen M, Rintala RJ et al.: Posterior myotomy/myectomy for persistent stooling problems in Hirschsprung’s disease. J Pediatr Surg United States 2004; 39(6): 920-926.
29. Yanchar NL, Soucy P: Long-term outcome after Hirschsprung’s disease: patients’ perspectives. J Pediatr Surg United States 1999; 34(7): 1152-1160.
30. Ludman L, Spitz L, Tsuji H, Pierro A: Hirschsprung’s disease: functional and psychological follow up comparing total colonic and rectosigmoid aganglionosis. Arch Dis Child 2002; 86(5): 348-351.
31. Rescorla FJ, Morrison AM, Engles D et al.: Hirschsprung’s disease. Evaluation of mortality and long-term function in 260 cases. Arch Surg United States 1992; 127(8): 932-934.
32. Baillie CT, Kenny SE, Rintala RJ et al.: Long-term outcome and colonic motility after the Duhamel procedure for Hirschsprung’s disease. J Pediatr Surg United States 1999; 34(2): 325-329.
33. Ishikawa N, Kubota A, Kawahara H et al.: Transanal mucosectomy for endorectal pull-through in Hirschsprung’s disease: comparison of abdominal, extraanal and transanal approaches. Pediatr Surg Int Germany 2008; 24(10): 1127-1129.
34. Till H, Heinrich M, Schuster T, Schweinitz D: Is the anorectal sphincter damaged during a transanal endorectal pull-through (TERPT) for Hirschsprung’s disease? A 3-dimensional, vector manometric investigation. Eur J Pediatr Surg Off J Austrian Assoc Pediatr Surg = Zeitschrift fur Kinderchirurgie United States 2006; 16(3): 188-191.
35. Van Leeuwen K, Geiger JD, Barnett JL et al.: Stooling and manometric findings after primary pull-throughs in Hirschsprung’s disease: perineal versus abdominal approaches. J Pediatr Surg United States 2002; 37(9): 1321-1325.
36. Stensrud KJ, Emblem R, Bjørnland K: Functional outcome after operation for Hirschsprung disease-transanal vs transabdominal approach. J Pediatr Surg 2010; 45(8): 1640-1644.
37. Oh C, Lee S, Lee S-K, Seo J-M: Difference of Postoperative Stool Frequency in Hirschsprung Disease According to Anastomosis Level in a Single-Stage, Laparoscopy-Assisted Transanal Endorectal Pull-Through Procedure. Medicine (Baltimore) 2016; 95(14): e3092.
38. Jarvi K, Laitakari EM, Koivusalo A et al.: Bowel function and gastrointestinal quality of life among adults operated for Hirschsprung disease during childhood: a population-based study. Ann Surg United States 2010; 252(6): 977-981.
39. Riss S, Herbst F, Birsan T, Stift A: Postoperative course and long term follow up after colectomy for slow transit constipation – is surgery an appropriate approach? Colorectal Dis England 2009; 11(3): 302-307.
40. Pinedo G, Zarate AJ, Garcia E et al.: Laparoscopic total colectomy for colonic inertia: surgical and functional results. Surg Endosc Germany 2009; 23(1): 62-65.
41. Sohn G, Yu CS, Kim CW et al.: Surgical outcomes after total colectomy with ileorectal anastomosis in patients with medically intractable slow transit constipation. J Korean Soc Coloproctol Korea (South) 2011; 27(4): 180-187.
42. Hsiao KCW, Jao S-W, Wu C-C et al.: Hand-assisted laparoscopic total colectomy for slow transit constipation. Int J Colorectal Dis Germany 2008; 23(4): 419-424.
43. FitzHarris GP, Garcia-Aguilar J, Parker SC et al.: Quality of life after subtotal colectomy for slow-transit constipation: both quality and quantity count. Dis Colon Rectum United States 2003; 46(4): 433-440.
44. Vorobyov GI, Achkasov SI, Biryukov OM: Clinical features’ diagnostics and treatment of Hirschsprung’s disease in adults. Color Dis 2010; 12(12): 1242-1248.
45. Elliot MS, Todd IP: Adult Hirschsprung’s disease: results of the Duhamel procedure. Br J Surg England 1985; 72(11): 884-885.
46. Barnes PR, Lennard-Jones JE, Hawley PR, Todd IP: Hirschsprung’s disease and idiopathic megacolon in adults and adolescents. Gut England 1986; 27(5): 534-541.
47. Natsikas NB, Sbarounis CN: Adult Hirschsprung’s disease. An experience with the Duhamel-Martin procedure with special reference to obstructed patients. Dis Colon Rectum United States 1987; 30(3): 204-206.
48. Qiu J-F, Shi Y-J, Hu L et al.: Adult Hirschsprung’s disease: report of four cases. Int J Clin Exp Pathol United States 2013; 6(8): 1624-1630.
49. Bapaye A, Wagholikar G, Jog S et al.: Per rectal endoscopic myotomy (PREM) for the treatment of adult Hirschsprung’s disease – First human case (with video). Dig Endosc 2016; 28(6): 680-684.