Hirschsprung Disease

BackgroundHirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management.AimsThis guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders.MethodsRecommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted.ResultsThirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion.ConclusionIn rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.

BackgroundAdvances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. The aim of this systematic review is to clarify the prevalence of long-term outcomes and the quality of life of these patients.MethodsPubMed, AMED, Cochrane Library, CINAHL and PsycINFO databases were searched from inception to October 2018, following the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guideline. Original studies reporting the outcomes of patients older than ten years with HD were selected and reviewed. The overall prevalence of fecal incontinence, constipation, bowel function score, bladder dysfunction symptoms, and patients' quality of life were extracted from the included studies and pooled through the random-effects meta-analysis model. The heterogeneity and variation in the pooled estimations were evaluated by Cochrane's Q test and the I2 test. The sensitivity analysis was conducted by the sequential omission of individual studies. Publication bias was evaluated by Egger's linear regression test. The whole procedure was conducted with Stata (version 14).ResultsIn total, 3406 articles were identified from the literature search, among which twelve studies, including 625 patients, were included for analysis. The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.13-0.28), 0.14 (95% CI 0.06-0.25), 0.07 (95% CI 0.04-0.12), and 0.95 (95% CI: 0.91-0.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56-123.44).ConclusionsHD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. Targeted and evidence-based follow-up procedures and transitional care are essential to meet these patients' long-term care needs. Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

Hirschsprung's disease is a neurocristopathy, caused by defective migration, proliferation, differentiation and survival of neural crest cells, leading to gut aganglionosis. It usually manifests rapidly after birth, affecting 1 in 5000 live births around the globe. In recent decades, there has been a significant improvement in the understanding of its genetics and the association with other congenital anomalies, which share the pathomechanism of improper development of the neural crest. Apart from that, several cell populations which do not originate from the neural crest, but contribute to the development of Hirschsprung's disease, have also been described, namely mast cells and interstitial cells of Cajal. From the diagnostic perspective, researchers also focused on "Variants of Hirschsprung's disease", which can mimic the clinical signs of the disease, but are in fact different entities, with distinct prognosis and treatment approaches. The treatment of Hirschsprung's disease is usually surgical resection of the aganglionic part of the intestine, however, as many as 30-50% of patients experience persisting symptoms. Considering this fact, this review article also outlines future hopes and perspectives in Hirschsprung's disease management, which has the potential to benefit from the advancements in the fields of cell-based therapy and tissue engineering.

BackgroundEarly definitive surgery for Hirschsprung disease (HD) in neonates is increasingly adopted to reduce preoperative morbidity and preserve long term bowel function. However, comparative data across minimally invasive approaches in neonates with short segment disease remain limited. This study compared outcomes of single incision laparoscopic assisted endorectal pull through (SILEP), conventional laparoscopic assisted endorectal pull through (CLEP), and complete transanal endorectal pull through (TERPT) for rectosigmoid HD.MethodsWe conducted a retrospective cohort study of 55 neonates who underwent one stage definitive surgery before 28 days of age at a high volume center between January 2019 and December 2021. The primary outcome was long term bowel function assessed using the Rintala Bowel Function Score (BFS) after a minimum of 4 years of follow up. Secondary outcomes included operative parameters, postoperative complications (Clavien Dindo classification), and cosmetic outcomes using the Manchester Scar Scale (MSS) in the laparoscopic groups.ResultsAll patients successfully underwent surgery at a mean age of 22.4 ± 4.3 days. Operative time differed across approaches and was shorter for SILEP (53.8 ± 11.9 minutes) and TERPT (52.1 ± 18.3 minutes) than for CLEP (70.2 ± 22.5 minutes, p = 0.036). At follow up (mean 54.0 ± 7.7 months), the overall BFS was 17.5 ± 2.5 with no significant differences among groups (p = 0.32). MSS was numerically lower for SILEP than for CLEP (6.2 ± 1.1 vs 6.8 ± 1.9, p = 0.53). Complications were infrequent, with 14 minor and 7 major events, and there was no mortality or Clavien Dindo grade IV or V morbidity.ConclusionSILEP, CLEP, and TERPT are feasible one stage options for neonates with rectosigmoid HD, with comparable long term bowel function and low rates of major complications. SILEP and TERPT were associated with shorter operative times, and SILEP showed a trend toward improved cosmetic scores compared with CLEP. These findings support an individualized approach to technique selection based on intraoperative requirements and institutional expertise.