家族性幼年性息肉病的家系研究

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0．1～2．5cm，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。

The diagnosis and management of familial juvenile polyposis

Objective To study the clinical characteristics and explore the diagnosis and treatment of patients with familial juvenile polyposis ( FJP). Methods Two families were registered and surveyed, clinical and pathological data were reviewed retrospectively. Results We identified two probands and reviewed five patients. Three more patients had been found from the high risk relatives by coloscopic screening. Altogether there were ten patients collected from two families, among them six were female and four male. The mean age of presentation of juvenile polyposis were 26 years old (age ranging from 4 to 34), main clinical features included diarrhea and polyps. Eight patients from one family each had 2-89 polyps and with two suffering from colorectal carcinoma. Other two patients from another family had multiple polyps without canceration. Five patients after protocolorectomy were followed up for 5 ~ 28 years without canceration. One patient with left colecotomy was followed up for one year with no polyps recurrence. One patient suffered from right colon cancer after 13 years of gastric and colorectal polyps extirpation. One patient died from rectal carcinoma after half year of operation. Conclusions Familial juvenile polyposis is a rare dominant autosomal hereditary disease with potential canceration. Proctocolectomy and ileal pouch-anal anastomosis is recommended as the therapy for the prevention of canceration.