[Clinicopathological features and prognosis of 47 adults with Hirschsprung's disease and Hirschsprung's disease allied disorders].

Objective: To improve understanding and treatment of adult Hirschsprung's disease (HD) and Hirschsprung's disease allied disorders (HAD) by investigating the clinicopatho- logical features, diagnostic and treatment methods, and prognosis. Methods: This was a retrospective observational study. The study cohort comprised patients aged 18-65 years admitted to the Sixth Hospital of Sun Yat-sen University between January 2007 and December 2022 who were diagnosed with adult HD or HAD by postoperative pathological examination. Those with severe cardiovascular disease, diabetes mellitus, or cirrhosis of the liver were excluded, leaving 47 patients in the study cohort. Emergency open surgery was performed on patients with life-threatening manifestations, whereas those whose condition was stable received conservative treatment to stabilize them, following which they underwent a standard surgical procedure. Surgical procedures performed included the Duhamel procedure, Soave procedure, subtotal colonic resection, total colonic resection, and creation of a palliative stoma. Variables studied included clinicopathological characteristics, treatment modalities, postoperative complications, and long-term anal function. Complications were evaluated in accordance with the Clavien-Dindo criteria, and long-term anal function according to the 2005 Krickenbeck International Classification Criteria. Results: Of the 47 patients, 33 were men and 14 women, with a median age of 29 (18-51) years. HD was diagnosed in 41 (87.2%) patients and HAD in six (12.8%). The commonest initial symptom was dyspareunia (70.2%,33/47), followed by abdominal distension (57.4%, 27/47) and abdominal pain (44.7%,21/47). The detection rates of HD/HAD by barium enema + defecography, anorectal manometry, and preoperative rectal biopsy were 86.8% (33/38), 16/19, and 7/7, respectively. Three (6.4%) patients had discrepant preoperative clinical and postoperative pathological diagnoses. None of the three misdiagnosed patients had undergone preoperative rectal biopsy. Of the 47 study patients, three chose non-surgical treatment and 44 surgical treatment. All surgeries were successfully completed. Postoperative complications occurred in 19 patients (43.2%), including one death case who had undergone emergency surgery. The median duration of follow-up after surgery was 65 (12-180) months. Three patients in the surgical treatment group were lost to follow-up. Of the remaining 41 patients, 36, three, and two had excellent, good, and poor long-term anal function, respectively. The differences in outcomes between the surgical and non-surgical treatment groups (no patients, one, and two with excellent, good, and poor long-term anal function, respectively) (Z=-3.883, P=0.001) were statistically significant. Of the 44 patients who underwent surgical treatment, 41 underwent standard surgeries and three emergency surgeries because their conditions were life-threatening. The difference in complication rate between standard surgery and emergency surgery groups (39.0% [16/41] vs. 3/3, χ2=2.115, P=0.146) was not statistically significant. However, the rate of postoperative Grade III-V complications was lower in the standard surgery group (4.9% [2/41] vs. 2/3, Z=-2.668, P=0.008). Long-term anal function was significantly better in the standard surgery than emergency surgery group (94.7% [36/38] vs. 0/3, Z=-4.935, P=0.001). The 41 standard surgeries included 11 Duhamel's procedures, six Soave's procedures, 19 subtotal colonic resections, three total colonic resections, and two palliative colostomies. The incidence of postoperative complications was significantly superior in the Duhanmels procedures and palliative colostomies group(1/11 and 0/2, P=0.041). Of the 41 patients who underwent standard surgery, 23 underwent open surgery and 18 minimally invasive laparoscopic surgery. The incidence of postoperative Grade III-V complications and long-term anal function were significantly superior in the laparoscopic group than in the open group (all P<0.05). Conclusion: It is easy to misdiagnose adult HD and HAD, surgical treatment is safe and feasible, and its long-term efficacy is good.目的： 探讨成人先天性巨结肠病（HD）及成人先天性巨结肠类缘病（HAD）的临床病理特征、诊治方法和预后，提高对该病的认识和治疗水平。 方法： 本研究采用回顾性观察性研究方法。纳入2007年1月至2022年12月期间，中山大学附属第六医院收治的18~65岁、术后经病理检查确诊为成人HD或成人HAD的患者，排除伴有严重心血管疾病、糖尿病、肝硬化或肠易激综合征引起的排便障碍者。共纳入47例患者。对于病情危及生命者，行急诊开腹手术治疗；对于病情稳定者，则行保守治疗，待稳定病情后行择期手术治疗。采用手术方式包括Duhamel术、Soave术、结肠次全切除术、结肠全切除术和姑息性造口。观察指标为HD及HAD患者的临床病理特征、治疗方式、术后并发症发生情况及远期肛门功能。并发症采用Clavien-Dindo评价标准，远期肛门功能的评价参照2005年Krickenbeck国际分类标准。 结果： 全组患者，男性33例，女性14例，中位年龄29（18~51）岁。41例（87.2%）为成人HD，6例（12.8%）为成人HAD。常见的初期症状为排便困难（70.2%，33/47），其次是腹胀（57.4%，27/47）和腹痛（44.7%，21/47）。钡灌肠+排粪造影检查、肛门直肠动力学检测、术前直肠活检的阳性检出率分别为86.8%（33/38）、16/19和7/7。本组有3例患者术后病理诊断与术前诊断不一致，误诊率为6.4%，此3例均未做术前直肠活检。全组患者中，3例选择非手术治疗；44例患者选择手术治疗，均顺利完成手术，19例（43.2%）发生术后并发症，其中1例急诊手术患者死亡。术后中位随访65（12~180）个月，手术治疗组3例失访，其余41例远期肛门功能为优、良、差的患者分别为36例、3例和2例，与非手术治疗组相比（远期肛门功能优、良、差的患者分别为0、1和2例），差异有统计学意义（Z=-3.883，P=0.001）。44例手术治疗患者中，41例行平诊手术，3例因为病情危及生命而行急诊手术。平诊手术组与急诊手术组并发症发生率差异无统计学意义［39.0%（16/41）比3/3，χ2=2.115，P=0.146］，但平诊手术组术后Ⅲ~Ⅴ级并发症发生率更低［4.9%（2/41）比2/3，Z=-2.668，P=0.008］。平诊手术组远期肛门功能优于急诊手术组，差异具有统计学意义［94.7%（36/38）比0/3，Z=-4.935，P=0.001］。41例平诊手术中，包括11例Duhamel术，6例Soave术，19例结肠次全切除术，3例结肠全切术，2例结肠姑息性造口术。Duhamel术和姑息性造口术后总体并发症发生率较低（1/11和0/2，P=0.041）。41例平诊手术患者中，23例行开腹手术，18例行腹腔镜微创手术，与开腹手术组相比，腹腔镜手术组术后Ⅲ~Ⅴ级并发症发生率更低，远期肛门功能更优，差异具有统计学意义（均P<0.05）。 结论： 成人HD和成人HAD容易出现误诊，手术治疗安全可行，远期疗效好。.