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目的总结家族性幼年性息肉病(familial juvenile polyposis,FJP)的诊断与治疗经验。方法收集先证者并进行家系调查和临床观察,总结临床病理资料。结果收集先证者2例,诊治患者5例,肠镜筛检患者一级亲属新发现息肉3例,共10例;男4例,女6例,发病年龄4—34岁,平均26岁。主要临床表现为便血、腹泻和息肉脱出。1个家系的8例患者分别发现结直肠息肉2～89个, 2例癌变;另1家系患者结直肠弥漫性息肉,无癌变。息肉直径0．1—2．5 cm,多有蒂。行结直肠切除术5例,3例术后再发息肉经电灼处理,随访5—28年无癌变;左半结场切除1例,已随访1年,未发现新息肉;1例行胃与结直肠息肉摘除,12年后发现盲肠癌;姑息性直肠癌切除术1例,术后6个月死亡;1例只发现2个直肠息肉,未治疗,已随访1年无变化。结论FJP临床特征为多发的结直肠幼年性息肉,也可合并胃与小肠息肉,有癌变倾向。多发的结直肠幼年性息肉及家族史是主要诊断依据。早期息肉或病变肠段切除,预防性结直肠切除可防治息肉癌变。
Objective To summarize the experience of diagnosis and treatment of familial juvenile polyposis (FJP). Methods The probands were collected and pedigree investigation and clinical observation were made to summarize the clinical and pathological data. Results There were 2 cases of probands, 5 cases of diagnosis and treatment, and 3 cases of newly detected polyps in first-degree relatives of colonoscopy patients. There were 10 males and 4 females, 6 females, with an average age of 26 years old. The main clinical manifestations of blood in the stool, diarrhea and polyps prolapse. One family member of 8 patients were found in colorectal polyps 2 to 89, 2 cases of cancer; the other patients with colorectal polyps, no cancer. Polyps 0.1-2.5 cm in diameter, mostly pedunculated. Colorectal resection in 5 cases, 3 cases of recurrent polyp after electrocautery treatment, follow-up 5-8 years without canceration; left half field excision in 1 case, have been followed up for 1 year, no polyps found; 1 case of gastric And colorectal polyps removed, cecum cancer was found after 12 years; 1 case of palliative rectal cancer resection, 6 months after the operation died; 1 case only 2 rectal polyps were found, untreated, no change 1 year follow-up. Conclusion FJP clinical features of multiple colorectal juvenile polyps can also be combined with stomach and small intestine polyps, a tendency to cancer. Multiple colorectal juvenile polyps and family history is the main diagnostic basis. Early polyps or lesions of intestinal resection, prophylactic colorectal resection can prevent cancer of the polyps.