尚未建立先天性孤立性神经节减少症(CIHG)的标准诊断方法或手术治疗方法。本研究旨在分析CIHG患者的临床结局,并确定迄今为止提供的最佳手术干预措施。收集了1992年至2020年期间19例患者的手术干预数据,包括肠造口的类型,修订类型,和肠子的长度。使用HuC/D染色计数肌间神经丛中的神经节细胞。小肠的长度与其高度之比定义为肠比(IR)。使用造口输出评估结果,生长参数,包括体重指数(BMI),和肠外营养(PN)依赖性。所有患者都需要分流肠造口。多次非移植手术后的IR范围为0.51至1.75。造口类型是管状造口,末端气孔,Santulli型,和Bishop-Koop(BK)型。与具有末端造口或管状造口的患者相比,具有Santuli或BK型造口的患者在体积方面具有更好的BMI和更少的PN依赖性。2例BK型造口脱离PN,三名接受肠道移植(Itx)的患者获得了肠道自主性。CIHG的管理涉及使用HuC/D染色的精确诊断,新生儿肠造口术,如果其他治疗不能实现肠内自主性,则使用调整后的IR和Itx进行造口翻修。
No standard diagnostic method or surgical treatment for congenital isolated hypoganglionosis (CIHG) has been established. This study aimed to analyze the clinical outcomes of patients with CIHG and identify the best surgical interventions provided thus far. Data on surgical interventions in 19 patients were collected between 1992 and 2020, including the type of enterostomy, type of revision, and length of the intestines. Ganglion cells in the myenteric plexus were enumerated using Hu C/D staining. The ratio of the length of the small intestine to its height was defined as the intestinal ratio (IR). The outcomes were assessed using the stoma output, growth parameters including the body mass index (BMI), and parenteral nutrition (PN) dependency. All patients required a diverting enterostomy. The IR ranged from 0.51 to 1.75 after multiple non-transplant surgeries. The stoma types were tube-stoma, end-stoma, Santulli-type, and Bishop-Koop (BK)-type. Patients with Santulli- or BK-type stomas had better BMIs and less PN dependency in terms of volume than those with end-stomas or tube-stomas. Two patients with BK-type stomas were off PN, and three who underwent an intestinal transplantation (Itx) achieved enteral autonomy. The management of CIHG involves a precise diagnosis using Hu C/D staining, neonatal enterostomy, and stoma revision using the adjusted IR and Itx if other treatments do not enable enteral autonomy.