3例家族性腺瘤性息肉病家系诊治分析

目的 分析一家族性腺瘤性息肉病（FAP）家系的临床表型，对显性发病患者确定结肠镜随访间隔时间，探讨大数量切除结肠息肉的安全性与临床意义。 方法 在确定先证者后，对该家族成年成员进行结肠镜检查，对发现的显性发病患者进行结肠息肉的结肠镜下治疗以及随访。 结果 该家系成员共25人，其中女性14人，男性11人；显性发病3人，均属于传统型FAP，其中女性2人，男性1人且为其中1位女性之子；向上家系追溯，该家系有3位女性发病且故于结肠癌。自2007年10月至2012年11月，对3例显性发病患者共进行结肠镜随访与治疗27次，切除息肉1 801枚，除2枚（2.5 cm和3.0 cm）分别进行息肉剥脱+圈套切除术外，其余息肉均采用高频电圈套法、热活检钳摘除与灼除等方式。在集中处理高危息肉后，结肠镜随访间隔时间为每6月1次。手术过程安全，随访中未发现癌变腺瘤，但发现高危腺瘤（伴鱼鳞样黏膜）。结论 结肠镜下大数量切除结肠息肉具有较高的安全性，此种方式对不接受结肠手术的人群具有临床意义。从预防角度初步确定结肠镜随访间隔时间为6月，但需要进一步探讨，包括同时增加药物预防措施。

Pedigree Analysis of Familial Adenomatous Polyposis 3 Cases

Objecttive To analyze the clinical phenotypes of a familial adenomatous polyposis (FAP) pedigree,to determine the interval between follow-up colonoscopies of dominant FAP patients and to discuss the safetyand clinical signifi cance of multiple colonic polyps resection. Methods After identifying the proband of FAP,we performed colonoscopies in adult members of the family. For patients diagnosed as dominant FAP, we carriedout treatment under colonoscopy and follow-up. Results There are 25 people in this family, with 11 malesand 14 females. Only three members, two females and one male, were diagnosed as conventional dominantFAP. Besides, this male is the son of one of the two females. Tracing back to the pedigree, 3 females were FAPand died of colorectal cancer. From October 2007 to May 2012, we had performed 27 times of treatments undercolonoscopy and follow-up for the three dominant FAP. Two polyps（2.5 cm，3.0 cm, respectively）were treatedthrough polyp stripping and trepanned resection, and the other 1 799 polyps all underwent high-frequencyelectrocautery, excision and cauterization with hot biopsy forceps, and so on. After the high-risk polyps weretreated, the interval of colonoscopy follow-up was once every 6 months. The operation process was safe. Duringthe follow-up, we have found high-risk adenoma with the scales shaped mucosa, but no cancerous adenoma.Conclusion Multiple colonic polyps resection through colonoscopy still has high safety, and this treatment hasgreat clinical signifi cance for patients who do not accept colon surgery. We preliminarily determined that theinterval of colonoscopy follow-up was 6 months in terms of prevention, but this needs to be further evaluated,including adding drug prevention measures at the same time.