Chinese expert consensus statement on the diagnosis and treatment of Hirschsprung disease

摘要

Hirschsprung disease (HSCR) is a congenital anomaly of the intestine caused by the developmental absence of the enteric nervous system, which results in variable lengths of intestinal dysfunction and requires surgical intervention.[1] Due to the complex etiology, multiple surgical procedures and postoperative complications, the diagnosis and treatment strategies of HSCR have always been the focus of pediatric surgeons around the world. Seventy pediatric surgical experts with rich clinical experience from almost all national and provincial children’s medical centers in China constituted the Chinese Research Group of Hirschsprung disease (CRGHSCR). All members discussed and compiled the disagreements concerning the diagnosis, treatment [Supplementary File, https://links.lww.com/CM9/B890], and perioperative management of HSCR based on existing evidence from previous articles, in combination with the latest high-quality evidence. The current consensus statement is aimed at standardizing the diagnostic and surgical strategies, and emphasizing postoperative rehabilitation training, to systematically improve postoperative recovery and to improve the quality of life in long-term follow-up. The consensus was reached through a total of three rounds of discussions between February 2019 and June 2022. A modified Delphi method was used for as many reiterative rounds as necessary. The quality of evidence and recommendations were evaluated according to the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system. Diagnosis of HSCR Meconium is delayed 24 h after birth in approximately 90% of HSCR patients.[1] The symptoms of premature infants with HSCR are similar to those of full-term infants. Recommendation 1: HSCR should be considered for all neonates who fail to pass meconium within 24 h after birth. (Grade 1A) Digital rectal examination (DRE) is an important method for screening HSCR. It is also a simple method for the differential diagnosis of anorectal malformations. Recommendation 2: DRE can exclude anorectal malformations and screen for HSCR. (Grade 1B) In contrast enema (CE) test, the most intuitive manifestation of HSCR is the transition zone (TZ) between the narrow distal segment without ganglion cells and dilated proximal colon with normal ganglion cells. In a systematic review, CE had a mean sensitivity of 70% (95% confidence interval [CI]: 64–76%) and a mean specificity of 83% (95% CI: 74–90%) for the diagnosis of HSCR.[2] Recommendation 3: Preoperative CE can detect the TZ and provide information, which can be beneficial to determine the lesion range in HSCR. (Grade 1A) Anorectal manometry (ARM) is used to evaluate the voluntary and involuntary properties of the anorectum. One of the most important manometry assessment indicators for anorectal function is the recto-anal inhibitory reflex (RAIR). In a systematic review, the mean sensitivity and mean specificity of ARM were 91% (95% CI: 85–95%) and 94% (95% CI: 89–97%), respectively.[2] However, in a subgroup analysis of the diagnostic accuracy of ARM in infants younger than 6 months, ARM had a lower sensitivity of 88% and specificity of 89%.[3] Recommendation 4: ARM can be a routine method for the preoperative diagnosis of HSCR. (Grade 1A) The preoperative diagnosis of HSCR mainly depends on the histopathological analysis of rectal biopsies, including rectal suction biopsy (RSB) and full-thickness rectal biopsy (FTRB). A systematic review demonstrated that the mean sensitivity of RSB was 96.84% (95% CI: 95.57–97.47%), and the mean specificity was 99.42% (95% CI: 99.17–99.57%), but 8.46% (95% CI: 7.55–9.46%) repeated RSB was required due to insufficient specimens. Systematic review showed that the conclusive rates of RSB and FTRB did not significantly differ.[4] Commonly used histological staining methods include hematoxylin and eosin (HE), enzyme histochemical staining for acetylcholinesterase (AChE), and immunohistochemical staining for calretinin. In