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眼底检查在家族性腺瘤性息肉病诊断中的价值
徐晓东,于恩达,丁衍,孟荣贵,XUXiao-dong,YUEn-da,DINGYan,MENGRong-gui
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摘要:
目的:探讨先天性视网膜色素上皮细胞肥大(CHRPE)在家族性腺瘤性息肉病诊断中的意义.方法:对我科2001年1月至2003年6月收治的22例FAP患者和对照组10例散发性大肠息肉患者进行视网膜检查,分析CHRPE的发生率、形态特征以及分布规律.结果:22例FAP患者中发现17例眼底伴有CHRPE表现(17/22,81.8%);表现特征为双侧分布、多发性(≥2个),并沿末梢血管分布的椭圆状色素沉着.对照组中1例发现有CHRPE.结论:眼底检查是具有高度灵敏度和特异性的FAP辅助诊断,是家系成员筛选安全、有效的手段.
关键词:  腺瘤息肉病,结肠、视网膜镜检查、诊断
DOI:10.3724/SP.J.1008.2006.00364
基金项目:
Value of optical fundus examination in diagnosis of familial adenomatous polyposis
徐晓东,于恩达,丁衍,孟荣贵,XU Xiao-dong,YU En-da,DING Yan,MENG Rong-gui
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Abstract:
Objective:To discuss the value of congenital hypertrophy retinal pigment epithelium (CHRPE) in diagnosis of familial adenomatous polyposis (FAP). Methods: Twenty two FAP patients who have received treatment in our department (January 2001 to June 2003) and 10 patients with sporadic colorectal polys (as control group) were subjected to optical fundus examination. The incidence, morphological feature and distribution of CHRPE were analyzed. Results: Seventeen(81.8%) of the 22 FAP patients were found to have CHRPE in optical fundus. The lesions showed a bilateral and multiple(≥2) distribution along the peripheral vessels with oval pigmentation. One patient was found to have CHRPE in the control group. Conclusion: Optical fundus examination is a highly sensitive and specific adjuvant diagnosis for FAP. It is a safe and effective way for screening FAP in FAP family members
Key words:  adenomatous polyposis coli  retinoscopy  diagnosis