家族性腺瘤性息肉病的临床分析

Clinical analysis familial adenomatous polyposis

目的探讨家族性腺瘤性息肉病(FAP)的早期诊断和治疗方法。方法通过围绕FAP先证者进行家系调查,绘制每个家系的患病分布图,进行系谱分析;回顾性分析资料完整的6个家系,总结其临床特征,对高危亲属进行随访监测。结果 6个家系共83人,受检成员61人;确诊患病20例,发病率32.8%(20/61)。男女比例为13:7,发病平均年龄32.7岁。癌变7例,男:女为4:3,癌变率35%(7/20),癌变平均年龄42.4岁;7例癌变病人随访期死亡3例,死亡率15%(3/20)。发病20例患者中行全结肠切除术+直肠部分切除术+回肠直肠吻合术3例;全结肠切除术+直肠部分切除术+回肠直肠吻合术+回肠贮袋4例,全结肠切除术+直肠部分切除术+回肠直肠吻合术+回肠造瘘术1例,经肛门直肠息肉切除止血术1例,经内镜下高频电切术4例,未作任何治疗7例。行手术治疗患者随访2年,死亡3例,均因肝转移所致。结论通过家系调查,对高危亲属的追踪管理、肠镜监测,可以发现早期病例,行预防性手术效果满意。

Objective To investigate the early diagnosis and treatment of familial adenomatous polyposis.Methods According to proband of FAP the pedigrees and all lineal and collateral relatives were investigated.The pedigree tree of per pedigree was protracted.In these six pedigrees,close follow-up in order to find early cases among the relatives at high risk.Results Twenty FAP patients from six family constellation;including 83 members,61 members were accepted examine;incidence rate was 32.8%（20/61）.The rate of male and female was 13：7and the average was 32.7 years.7 members carcinomatous changed.The rate of male and female was 4：3.canceration rate was 35%（7/20）,mean age of carcinomatous changed was 42.4 years.3 patients of these carcinomatous change 7 patients die during follow-up period.,death rate was 15%（3/20）.total colectomy ＋ Ablation rectum ＋ileorectal anastomosis was performed on 3 patients with FAP;total colectomy ＋ Ablation rectum ＋ileorectal anastomosis ＋ileal pouch was performed on 4 patients;total colectomy ＋ Ablation rectum ＋ileorectal anastomosis ＋ileum enterostomy was performed on 1 patients;to cut rectal polypus and to stop bleeding per anum was performed on 1 patient;electrotomy use high frequency electric by Endoscope was performed on 4 patients;untrtetment 7 patients.Conclusions Pedigree investigation,close follow-up and termly endoscopic surveillance are very important to find early casea with FAP,and outcomes are satisfactory after prophylactic proctoclectomy.