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家族性腺瘤性息肉病的外科治疗:困境与当前建议

Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.

作者信息

Campos Fábio Guilherme

机构信息

Fábio Guilherme Campos, Department of Gastroenterology, Colorectal Surgery Division, Hospital das Clínicas, University of São Paulo Medical School, São Paulo 01411-001, Brazil.

出版信息

World J Gastroenterol. 2014 Nov 28;20(44):16620-9. doi: 10.3748/wjg.v20.i44.16620.

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

摘要

家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传综合征,其特征为多发性腺瘤性息肉(易发展为结直肠癌)以及众多结肠外表现。潜在的遗传负担会产生可能影响手术管理的可变临床特征。作为一种癌前遗传性疾病,进行预防性手术的基本原理是FAP管理的支柱。本文的目的是提出许多关于FAP手术治疗的争议性方面,并讨论手术选择和方法的结果及前景。理想情况下,决策过程不应局限于回直肠吻合术或保留肛门的直肠结肠切除术的传统利弊权衡。与患者进行广泛讨论可以评估诸如年龄、基因型、家族史、括约肌功能、硬纤维瘤病的存在或风险、每种手术的潜在并发症以及术后监测的机会等问题。因此,确定最佳时机和选择合适的手术方式构成一项个体化决策,必须考虑患者的偏好以及有关该疾病复杂性质的全面信息。所有这些事实都强化了这样一种观点,即FAP患者应由在专业中心工作的经验丰富的外科医生进行管理,以取得最佳的近期和长期效果。

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