Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel. The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates most aspects of bowel function. When the ENS is missing, there are no neurally mediated propulsive motility patterns, and the bowel remains contracted, causing functional obstruction. Symptoms of Hirschsprung disease include constipation, vomiting, abdominal distension and growth failure. Untreated disease usually causes death in childhood because bloodstream bacterial infections occur in the context of bowel inflammation (enterocolitis) or bowel perforation. Current treatment is surgical resection of the bowel to remove or bypass regions where the ENS is missing, but many children have problems after surgery. Although the anatomy of Hirschsprung disease is simple, many clinical features remain enigmatic, and diagnosis and management remain challenging. For example, the age of presentation and the type of symptoms that occur vary dramatically among patients, even though every affected child has missing neurons in the distal bowel at birth. In this Review, basic science discoveries are linked to clinical manifestations of Hirschsprung disease, including partial penetrance, enterocolitis and genetics. Insights into disease mechanisms that might lead to new prevention, diagnostic and treatment strategies are described.

大肠蠕动病的定义是肠末没有肠神经元。肠神经系统（ENS）是肠的固有神经系统，可调节肠功能的大多数方面。当ENS缺失时，没有神经介导的推进运动模式，肠管保持收缩，导致功能阻塞。Hirschsprung疾病的症状包括便秘，呕吐，腹胀和生长衰竭。未经治疗的疾病通常会导致儿童死亡，因为在肠道发炎（肠结肠炎）或肠穿孔的情况下会发生血液细菌感染。目前的治疗方法是手术切除肠，以切除或绕过ENS缺失的区域，但是许多孩子在手术后有问题。尽管Hirschsprung疾病的解剖很简单，许多临床特征仍然难以捉摸，诊断和管理仍然充满挑战。例如，即使每个患病的孩子出生时末梢肠中的神经元缺失，患者的表现年龄和出现的症状类型也有很大差异。在本综述中，基础科学发现与Hirschsprung疾病的临床表现有关，包括部分外显率，小肠结肠炎和遗传学。描述了对可能导致新的预防，诊断和治疗策略的疾病机制的见解。基础科学发现与Hirschsprung病的临床表现有关，包括部分外显率，小肠结肠炎和遗传学。描述了对可能导致新的预防，诊断和治疗策略的疾病机制的见解。基础科学发现与Hirschsprung病的临床表现有关，包括部分外显率，小肠结肠炎和遗传学。描述了对可能导致新的预防，诊断和治疗策略的疾病机制的见解。