Calkins Casey M
Division of Pediatric General and Thoracic Surgery, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin.
Clin Colon Rectal Surg. 2018 Mar;31(2):51-60. doi: 10.1055/s-0037-1604034. Epub 2018 Feb 25.
Hirschsprung disease (HD) is a common cause of neonatal intestinal obstruction in which a variable segment of the distal intestinal tract lacks the normal enteric nervous system elements. Affected individuals present with varying degrees of obstructive symptoms, but today most patients are diagnosed within the first several months of life owing to the well-recognized symptoms and the ease of making the diagnosis by way of the bedside suction rectal biopsy. Thus, for the adult general or colorectal surgeon, the vast majority of patients who present for evaluation will have already undergone surgical treatment within the first year of life by a pediatric surgeon. Despite several safe operative interventions to treat patients with HD, the long-term results are far from perfect. These patients may reach adult life with ongoing defecation disorders that require a systematic evaluation by a multidisciplinary group that should be led by a surgeon with a thorough knowledge of HD operations and the potential problems. The evaluation of these patients will form the basis for the majority of this review-however, some patients manage to escape diagnosis beyond the infant and childhood period-and a section herein will briefly address the case of an older patient who is suspected of having HD.
先天性巨结肠症（HD）是新生儿肠梗阻的常见病因，其远端肠道的可变节段缺乏正常的肠神经系统成分。患病个体表现出不同程度的梗阻症状，但如今由于症状广为人知且通过床边经直肠吸引活检易于诊断，大多数患者在出生后的头几个月内就能确诊。因此，对于成年普通外科或结直肠外科医生而言，前来评估的绝大多数患者在出生后的第一年内已由小儿外科医生进行了手术治疗。尽管有几种安全的手术干预措施可用于治疗HD患者，但其长期效果仍远非完美。这些患者成年后可能仍存在排便障碍，需要由一个多学科团队进行系统评估，该团队应由对HD手术及潜在问题有深入了解的外科医生牵头。对这些患者的评估将构成本综述大部分内容的基础——然而，一些患者在婴儿期和儿童期之后仍未被诊断出来——本文的一个章节将简要介绍一名疑似患有HD的老年患者的病例。
