家族性结肠息肉病21个家族74例报告

REPORT OF 74 CASES IN 21 FAMILIES OF FAMILIAL POLYPOSIS COLI(FPC)

目的 :探讨家族性结肠息肉病的临床表现规律 ,为其早期诊断及正确治疗提供依据。方法 :总结 2 1个家族 74例家族性结肠息肉病患者的临床资料 ,结合文献 ,对其病因、癌变、早期诊断及治疗等方面进行探讨。结果 :家族性结肠息肉病是由于基因突变所致 ,突变谱的不同决定了其临床表现的多样性 ;家族性结肠息肉病是一种癌前期病变 ,具有较高的癌变率 ;纤维结肠镜检查是家族性结肠息肉病早期诊断的一种行之有效的方法 ;合理的手术治疗可以取得满意的疗效。结论 :家族性结肠息肉病是一种遗传性疾病 ,癌变率较高 ,早期诊断、合理治疗可以取得满意的疗效。

Objective:To investigate the principles of clinical manifestation of familial poliposis coli (FPC) in order to provide basis for its early diagnosis and treatment.Methods: We summarized the clinical data of 74 cases in 21 families of FPC,and combined with literature to investigate its etiology, cancerization, early diagnosis and treatment.Results:FPC is resulted from gene mutation,and different mutations lead to wide varieties of clinical manifestation .FPC is a kind of precancerous lesions,which has a high cancerization rate. Colonofiberscope check is a effective method in the early diagnosis of FPC.Reasonable operation can get satisfactory result in the treatment for FPC.Conclusions:FPC is a kind of hereditary diseases which has a high cancerization rate; there is satisfactory result when early diagnosis and reasonable treatment are applied.