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13岁家族性腺瘤性息肉病患者行腹腔镜直肠结肠全切除并经肛门全直肠系膜切除术:病例报告及微创治疗方法综述

Laparoscopic restorative proctocolectomy with transanal total mesorectal excision for familial adenomatous polyposis in a 13-year-old: Case report and review of minimally invasive approaches.

作者信息

Yodying Hariruk

机构信息

Department of Surgery, HRH Princess MahaChakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok, Thailand.

出版信息

Int J Surg Case Rep. 2025 Jul 20;134:111697. doi: 10.1016/j.ijscr.2025.111697.

Abstract

BACKGROUND

Familial adenomatous polyposis (FAP) necessitates prophylactic colorectal surgery to prevent inevitable malignant transformation. While transanal approaches have gained acceptance in adult colorectal surgery, their application in pediatric populations remains limited. We present a young case and review current minimally invasive approaches for adolescent FAP management.

CASE PRESENTATION

A 13-year-old girl with genetically confirmed FAP (APC mutation c.3927_3931delAAAGA) presented with chronic lower gastrointestinal bleeding and iron deficiency anemia. Colonoscopy revealed extensive polyposis with high-grade dysplasia in multiple polyps involving both rectum and sigmoid colon. We performed laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis using transanal total mesorectal excision (TaTME) technique for rectal dissection. Total operative time was 280 min with minimal blood loss. The patient recovered uneventfully and was discharged on postoperative day 7. Diverting ileostomy was reversed at 10 weeks following contrast enema confirmation of intact anastomosis.

DISCUSSION

To our knowledge, this represents the youngest reported case of TaTME-assisted restorative proctocolectomy for FAP. While the narrow adolescent pelvis poses technical challenges for conventional approaches, it may theoretically enhance transanal visualization during the procedure. At two-year follow-up, the patient demonstrates good functional outcomes with 5-6 bowel movements per 24 h and maintained daytime continence.

CONCLUSION

Laparoscopic restorative proctocolectomy utilizing TaTME technique appears feasible and safe in carefully selected adolescent FAP patients when performed by experienced teams. This approach may offer advantages for rectal dissection in the confined pediatric pelvis while maintaining excellent functional outcomes. Further studies are needed to validate these findings.

摘要

背景

家族性腺瘤性息肉病(FAP)需要进行预防性结直肠手术以防止不可避免的恶变。虽然经肛门入路在成人结直肠手术中已被广泛接受,但其在儿科人群中的应用仍然有限。我们报告了一例年轻病例,并回顾了目前用于青少年FAP治疗的微创方法。

病例介绍

一名13岁女孩,基因检测确诊为FAP(APC突变c.3927_3931delAAAGA),出现慢性下消化道出血和缺铁性贫血。结肠镜检查显示广泛息肉病,累及直肠和乙状结肠的多个息肉存在高级别发育异常。我们采用经肛门全直肠系膜切除术(TaTME)技术进行腹腔镜保留肛门直肠切除术并回肠贮袋肛管吻合术用于直肠游离。总手术时间为280分钟,失血极少。患者恢复顺利,术后第7天出院。在造影剂灌肠证实吻合口完整后10周,关闭转流性回肠造口。

讨论

据我们所知,这是报道的最年轻的TaTME辅助保留肛门直肠切除术治疗FAP的病例。虽然青少年狭窄的骨盆给传统手术方法带来了技术挑战,但理论上在手术过程中可能会增强经肛门的视野。在两年的随访中,患者功能预后良好,每24小时排便5 - 6次,白天保持控便。

结论

由经验丰富的团队对精心挑选的青少年FAP患者进行腹腔镜保留肛门直肠切除术并采用TaTME技术似乎是可行和安全的。这种方法在狭窄的儿科骨盆中进行直肠游离时可能具有优势,同时保持良好的功能预后。需要进一步研究来验证这些发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8637/12305596/317996c9c68a/gr1.jpg

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