| 家族性腺瘤性息肉病的家系调查研究 |
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| 引用本文： | 安燕芳,吕愈敏,李军. 家族性腺瘤性息肉病的家系调查研究[J]. 中国医师进修杂志, 2007, 30(1): 32-34 |
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| 作者姓名： | 安燕芳 吕愈敏 李军 |
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| 作者单位： | 100083,北京大学第三医院消化科 |
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| 摘 要： | 目的探讨家族性腺瘤性息肉病的临床特点及家系调查登记的意义。方法对10个家系的患者及高危亲属进行登记、随访、结肠镜检查。结果普查Ⅰ、Ⅱ级亲属共45例，发现患者26例，其中新突变者3例，有症状者19例，已癌变者3例，5例有视网膜色素上皮细胞先天性肥大（CHRPE）。结论家族性腺瘤性息肉病的早期临床表现无特异性，开展患者登记家系调查是早期发现患者的主要途径。
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| 关 键 词： | 腺瘤 息肉病 家系 早期诊断 |
Research on regestration and family survey of familial adenomatous polyposis |
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| AN Yan-fang,LV Yu-min,LI Jun. Research on regestration and family survey of familial adenomatous polyposis[J]. Chinese Journal of Postgraduates of Medicine, 2007, 30(1): 32-34 |
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| Authors: | AN Yan-fang LV Yu-min LI Jun |
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| Affiliation: | Department of Digestive Diseoses,The Third Hospital, Peking University,Beijing 100083,China |
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| Abstract: | Objective To assess the clinical features of familial adenomatous polyposis(FAP)and the significance of registration and family survey. Method Ten pedigrees were studied,regestrated and followed-up. Results Forty-five high-risk relatives were examined and 26 new patients were found by colonscopy,among them ,there were 3 patients without family history,19 patients with symptoms,3 patients with carcinoma,5 patients with congenital hypertrophy of retinal pigment epithelium(CHRPE). Conclusions The clinical features of FAP are not special in early stage.It is important to carry out registration and family survey of FAP. |
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| Keywords: | Adenomatous Polyposis Familial Early diagnosis |
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