Active clinical trials for "Hirschsprung Disease"

This study aims to investigate long term outcomes of surgical intervention for Hirschsprung's disease and to explore the relation between scintigraphic defecography, type of surgery performed and symptoms as evaluated by a disease specific questionnaire.

Febrile urinary tract infection (FUTIs) are the most common bacterial infections in children under the age of 2 years. They represent 7% of children presenting with fever without a source. In case of recurrent or undertreated FUTIs there is a risk for kidney function with the threat of chronic renal failure [7]. They are more often isolated but some FUTIs may reveal an underlying and facilitating condition. Beside the well-known congenital anomalies of the kidneys and urinary tract such as reflux or obstructions, others risk factors for FUTI are reported. Age less than 1 year, uncircumcised males, poor fluid intake, bladder bowel dysfunction (BBD) including dysfunctional voiding pattern and constipation increase the risk of FUTI. The prevalence of BBD in children with FUTIs is far higher than in the general population. Recommendations emphasize on an efficient treatment of BBD in the first-line management of recurring FUTIs and it has been proven to be efficient (ref). One of the BBD may include Hirschsprung's Disease (HD). HD is the first congenital malformation of the enteric nervous system with a reported prevalence of 1 in 5000 live birth. It's characterized by an aganglionosis and subsequent dysmotility affect by always the anal canal, most commonly there is a rectosigmoid form (74-80%), and less commonly involves a long segment of colon (12-22%) or a total colonic aganglionosis with ileal involvement upto 50 cm proximal to ileocecal junction (4-13%). The treatment is based on the resection of dysfunctional segment of colon with an anastomosis between the normally innervated bowel to the anus, while preserving normal sphincter function. But significant bowel dysfunction may persist postoperatively. 20% of the children present a fecal incontinence, and 14% a constipation in long-term studies. Bladder dysfunction and associated urological anomalies are also reported in these patients. All of that may facilitate the occurrence of febrile urinary tract infections (FUTI) in patients with HD. Unfortunately, few studies focused on this specific population. The objective of this study was to find out whether children with HD are more prone to develop FUTIs than controls and which patient with HD are more at risk to develop UTIs.

Hirschsprung's disease (HSCR) is a common digestive malformation with radiographic evidence of distal bowel obstruction and clinical signs of abdominal distension, vomiting, constipation, and failure to pass meconium. Bowel perforation (perforated HSCR) is a very serious complication of HSCR, but if this occurs it is most often in the neonatal period. The current study collected information on all cases diagnosed with perforated HSCR from multi-centers in China over 10 years, the aim was to evaluate the clinical features of perforated HSCR, and investigate possible risk factors for perforated HSCR in neonates.

The purpose of this study is to compare the diagnostic yield with endoscopic mucosal resection (EMR) in hirschsprung's disease versus that of standard rectal suction biopsy. In order to compare EMR versus rectal suction biopsy, patients' diagnostic specimens will be analyzed by tissue size, the presence of submucosal tissue, and positive acteylcholinesterase staining. Additionally, the proportion of patients who would have required subsequent full thickness surgical biopsy with each technique will be compared. Biopsy results will be compared with clinical data including history, Bristol stool scale, anorectal manometry results and SITZ markers studies. Finally, the estimated costs that would have been incurred with each method will be evaluated.

This study aims to compare the outcomes of patients with long segment Hirschsprung disease or total colonic aganglionosis who had negative calretinin staining and positive ganglion cells on the proximal resection margins to those who had both positive findings.

Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon. This impairs bowel relaxation which can lead to bowel disfunction, toxic megacolon, ileus and enterocolitis. So far, several genes have been identified that play a role in Hirschsprung's disease. The precise mechanisms however, remain unclear. This study wants to identify new mutations and hopefully clarify more about the etiology of the disease.

Surgical procedures for complex intestinal neonatal and paediatric diseases may require the use of an ostomy, in order to discharge the upper intestine. The traditional loop ileostomy has recently be challenged by ileostomies in continuity, either the Santulli or the Bishop-Koop one, that both decompresses the proximal dilated bowel and allow intestine fluid to pass through the underlying ileal anastomosis. Nevertheless, to date, no evaluation of their indications, complications and potential benefits has been made. The aim of this study is to retrospectively compare the outcomes of loop ileostomies and ileostomies in continuity in a paediatric population. It is thus expected to better define the specific indications for these different types of ileostomies in the paediatric and neonatal population.

Transition from paediatric to adult health care is crucial for preventing deterioration of chronic diseases. At present, transitional care (TC) is not established for patients with the Hirschsprung disease (H) and Anorectal Malformations (ARM). To set up a program for TC and to treat persisting symptoms in adults, data on outcome in adult patients are needed. At present such data are very limited. Therefore, we want to investigate clinical and PROM in H and ARM adolescents and adults. A cross sectional study in all H and ARM patients operated in Norway from 1970-2000 and in all adolescents operated at Oslo University Hospital from 2002-2006 will examine somatic, psychosocial and mental health, and quality of life (QoL). In children operated for H and ARM a large body of evidence shows that bowel problems, reduced QoL and impaired psychosocial and mental health are common. There are papers on sexual and urological impairment in these patients, but large studies on the topic is missing. It is a general assumption among paediatric surgeons that both somatic and mental health problems related to H and ARM improve during adolescence and adult life. Therefore, no standardized guidelines for TC in these patients have been established. Interestingly, very few studies have actually examined H and ARM patients beyond adolescence. Reports from patient organizations showing significant long-term sequels and inadequate understanding of the unique problems of H and ARM patients among health professionals treating adults. Hypothesis:H and ARM adults and adolescents have bowel, urinary and sexual difficulties and reduced QoL, psychosocial and mental health. H and ARM adults receive insufficient treatment of their chronic congenital disease. H and ARM patients with syndromes have particularly bad functional outcome. Anal dilatations and repeated rectal enemas have a negative impact on adolescent psychosocial and mental health. Main aim: Acquire knowledge about long-term bowel, urinary and sexual function, QoL and psychosocial and mental health in adult and adolescent H and ARM patients. Results: from this large study of H and ARM patients will have significant influence on treatment and follow-up, both nationally and internationally. Since very few countries except the Nordic countries have the possibility to follow patients with congenital malformations into adulthood, it is important that studies like this are done.

This is an observational study examining the long-term quality of life in patients with Hirschsprung's Disease in relation to the choice of surgical technique.