家族性腺瘤性息肉病六家系临床分析  

Clinical analysis of six kindreds of familial adenomatous polyposis

作　　者：何裕隆[1] 黄美近[1] 蔡世荣[1] 郑章清[1] 詹文华[1] 汪建平[1] 王吉甫[1] 

机构地区：[1]中山大学附属第一医院胃肠胰外科,广州510080

出　　处：《中华胃肠外科杂志》2003年第2期102-104,共3页Chinese Journal of Gastrointestinal Surgery

摘　　要：目的探讨家族性腺瘤性息肉病的早期诊断和治疗。方法通过家系调查,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(肠镜监测)。结果6个家系125位成员中患病20例,男女比例为14∶6,平均年龄38.5岁。20例中6例先证者行全结肠切除、直肠黏膜剥除、回肠储袋直肠肛管肌鞘吻合术(IPAA);其中首诊时合并息肉癌变1例,1例术后直肠残留息肉癌变,改行直肠切除、回肠永久性造口。12例行全结肠切除、回肠直肠吻合术(IRA);其中有6例首诊癌变者,5例死于结直肠癌术后复发和术后肝转移,死亡病例中位年龄48岁。通过肠镜随访监测发现无症状患者2例,年龄分别为18、23岁,行预防性IPAA效果满意。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 (FAP). Methods According to family history,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 and termly colonoscopy were performed in order to find early cases among the relatives at high risk. Results Twenty FAP patients from 6 unrelated kindreds without other tumors were enrolled in this study.The ratio of male and female was 16∶4 and the average age was 38 5 years.Ileorectal anastomosis(IRA) was performed on 12 patients with FAP. Among them, there were 6 patients with polyps canceration when FAP was first diagnosed, 5 of which died of colorectal cancer recurrence after IRA operation with median age of 48 years. Ileal pouch anal anastomosis (IPAA) was performed on six probands,one of which was accompanied by canceration when FAP was first diagnosed. Remnant polyps canceration occurred in one patient after operation, then rectal excision and ileostomy was performed. Through endoscopic surveillance, 2 FAP patients were detected before presenting symptom by the age 18 and 23 years respectively. Prophylactic IPAA was performed and outcomes were satisfactory. Conclusions Pedigree investigation,close follow up and termly endoscopic surveillance are very important to find early cases with FAP, and outcomes are satisfactory after prophylactic proctocolectomy.

关 键 词：家族性腺瘤性息肉病 诊断 家系分析 

分 类 号：R656.9[医药卫生—外科学]