Department of Pediatric Surgery, University of Texas Health Science Center at Houston, Houston, TX, USA.
Department of Surgery University of California Irvine and Division of Pediatric Surgery Children's Hospital of Orange County, USA.
J Pediatr Surg. 2021 Sep;56(9):1513-1523. doi: 10.1016/j.jpedsurg.2021.03.046. Epub 2021 Mar 28.
Long-Segment Hirschsprung Disease (LSHD) differs clinically from short-segment disease. This review article critically appraises current literature on the definition, management, outcomes, and novel therapies for patients with LSHD.
Four questions regarding the definition, management, and outcomes of patients with LSHD were generated. English-language articles published between 1990 and 2018 were compiled by searching PubMed, Scopus, Cochrane Central Register of Controlled Trials, Web of Science, and Google Scholar. A qualitative synthesis was performed.
66 manuscripts were included in this systematic review. Standardized nomenclature and preoperative evaluation for LSHD are recommended. Insufficient evidence exists to recommend a single method for the surgical repair of LSHD. Patients with LSHD may have increased long-term gastrointestinal symptoms, including Hirschsprung-associated enterocolitis (HAEC), but have a quality of life similar to matched controls. There are few surgical technical innovations focused on this disorder.
A standardized definition of LSHD is recommended that emphasizes the precise anatomic location of aganglionosis. Prospective studies comparing operative options and long-term outcomes are needed. Translational approaches, such as stem cell therapy, may be promising in the future for the treatment of long-segment Hirschsprung disease.
长段先天性巨结肠病（LSHD）在临床上与短段疾病不同。本文批判性地评价了目前关于 LSHD 患者定义、治疗、结局和新疗法的文献。
针对 LSHD 患者的定义、管理和结局提出了 4 个问题。通过检索 PubMed、Scopus、Cochrane 中央对照试验注册中心、Web of Science 和 Google Scholar 等数据库，收集了 1990 年至 2018 年发表的英文文献。采用定性综合分析法进行分析。
本系统评价共纳入 66 篇文献。建议采用标准化的命名和术前评估方法。对于 LSHD 的手术修复，目前尚无单一方法的充分证据支持。LSHD 患者可能存在长期的胃肠道症状，包括先天性巨结肠相关性结肠炎（HAEC），但其生活质量与匹配对照组相似。目前针对该疾病的手术技术创新较少。
建议采用标准化的 LSHD 定义，强调神经节细胞缺失的确切解剖位置。需要开展比较手术选择和长期结局的前瞻性研究。未来，干细胞疗法等转化方法可能有望成为长段先天性巨结肠病的治疗方法。
