家族性腺瘤性息肉病登记与家系调查初步报道

Preliminary Report on Registration and Family Survey of Familial Adenomatous Polyposis

统计分析浙江省海宁市1978年大肠癌普查资料及浙江医科大学附属第一医院1979年6月至1992年6月1712例大肠癌病案；登记了29个家系的37例家族性腺癌性息肉病（FAP）病人，完成其中14个家系调查，并对部分家系进行了眼底检查，统计FAP患病率为1．51／10万，FAP病变占大肠癌的0．94％。肠镜筛检57个高危亲属，发现18例新病人，病人中位年龄19岁，癌变率5．65％，显著低于求诊病人中位年龄31岁，癌变率64％（P均＜0．05）；眼底检查8例病人与4个正常亲属，病人均有先天性视网膜色素上皮增生（CHRPE）病变，而正常亲属无此病变。结果表明FAP并非很少见病，是大肠癌病因之一，理应重视；开展病人登记和家系调查对其早期诊断与癌变防治具有重要意义，眼底检查CHRPE病变可作筛检FAP新方法，此方法可靠、无创，值得推广。本文还探讨了FAP的发病情况和开展病人登记与家系调查的意义和方法。

Based on data collected from the population being screened for colorectal carcinoma in Haining county (Zhejiang province) and analysis of 1712 ofpatients with colorectal carcinoma hospitalized in the First Hospital of ZhejiangMedical University during the period of June 1979 to June 1992 thirty-seven casesof familial adenomatous polyposis (FAP) from 29 pedigrees were analysed. Fourteen of the 29 pedigrees were investigated, and members of them were repeatedlyexamined with ophthamoscope. The incidence of FAP was 1. 51/10 accounting for0. 94% of the entire series of colorectal cancer. There were eighteen new patientswith FAP found by fiberocolonoscopic screening among the 57 high-risk relatives.The median age of these 18 patients was 19 years which was significantly lowerthan the 31 years old of age in patients presented with clinical manifestations. Inthe 8 patients who had fundus examination there was congenital hypertrophy of theretinal pigment epithelium (CHRPE), while in the 4 normal relatives the fundi atophthamoscopy were negative. The results suggest that FAP is not rare in Chinaand that considerable concern should be given since it is precancerous. Therefore,it is of significance to carry out registration and family survey of FAP in suspiciousindividual. Fundus examination for CHRPE can be used as a new means in screening for FAP.