中国家族性腺瘤性息肉病患者视网膜色素上皮先天性肥大的发病率及预测价值
Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients.
作者信息
Lam D S, Kwok S P, Kwok A K, Liew C T, Lau J W, Pang C C
机构信息
Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, China.
出版信息
Chin Med J (Engl). 1998 Mar;111(3):278-81.
OBJECTIVE
To investigate the incidence and predictive value of congenital hypertrophy of retinal pigment epithelium (CHRPE) in the Chinese familial adenomatous polyposis (FAP) patients.
METHODS
Eleven FAP patients and 28 at risk relatives from 7 families were examined for CHRPE lesions.
RESULTS
CHRPE was present in all 11 FAP patients. Nine CHRPE lesions were found in 9 of the 28 at risk relatives. There were great intra and inter-familial variations of the CHRPE lesions. Two at risk relatives were diagnosed to have FAP only after our screening and subsequent proctosigmoidoscopy. Nine at risk relatives were put under high surveillance because of the presence of CHRPE.
CONCLUSION
The incidence of CHRPE in the FAP patients in our study is 100%. Eye examination for CHRPE for FAP patients and their at risk relatives is of very high value. A central FAP registry is thus recommended.
目的
探讨中国家族性腺瘤性息肉病（FAP）患者视网膜色素上皮先天性肥大（CHRPE）的发生率及预测价值。
方法
对来自7个家庭的11例FAP患者和28名高危亲属进行CHRPE病变检查。
结果
11例FAP患者均存在CHRPE。28名高危亲属中有9人发现9处CHRPE病变。CHRPE病变在家族内和家族间存在很大差异。2名高危亲属仅在我们的筛查及随后的直肠乙状结肠镜检查后才被诊断为FAP。9名高危亲属因存在CHRPE而被置于高度监测之下。
结论
在我们的研究中，FAP患者中CHRPE的发生率为100%。对FAP患者及其高危亲属进行CHRPE眼部检查具有很高的价值。因此建议建立一个中央FAP登记处。
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