先天性视网膜色素上皮肥大在一个家族性腺瘤性息肉病家族中作为一种临床标志物。
Congenital hypertrophy of the retinal pigment epithelium serves as a clinical marker in a family with familial adenomatous polyposis.
作者信息
Parisi M L
机构信息
Pennsylvania College of Optometry, Eye Institute, Philadelphia 19141-3399.
出版信息
J Am Optom Assoc. 1995 Feb;66(2):106-12.
BACKGROUND
Familial adenomatous polyposis (FAP) is characterized by the development of multiple adenomatous polyps of the large intestine and gastrointestinal tract. FAP leads to colon malignancy in 100 percent of untreated cases. Congenital hypertrophy of the retinal pigment epithelium (CHREPE) has been identified as a potential early clinical marker for FAP.
METHODS
Two generations received ocular examinations. One subject demonstrated CHRPE and was already known to have inherited FAP. His son showed typical CHRPE lesions associated with FAP and has most likely inherited the FAP gene.
RESULTS
This case report of a family with autosomal dominant familial adenomatous polyposis (FAP) demonstrates the role of CHRPE as a useful early detector of the inheritance of the FAP gene.
CONCLUSIONS
Early intervention (ocular and colorectal examinations) and treatment (colectomy) is advocated to prevent malignancy.
背景
家族性腺瘤性息肉病（FAP）的特征是大肠和胃肠道出现多个腺瘤性息肉。在未经治疗的病例中，FAP会导致100%的结肠癌。视网膜色素上皮先天性肥大（CHRPE）已被确定为FAP的一种潜在早期临床标志物。
方法
两代人接受了眼部检查。一名受试者表现出CHRPE，且已知患有遗传性FAP。他的儿子表现出与FAP相关的典型CHRPE病变，很可能继承了FAP基因。
结果
这份常染色体显性家族性腺瘤性息肉病（FAP）家族的病例报告证明了CHRPE作为FAP基因遗传有用早期检测指标的作用。
结论
提倡早期干预（眼部和结肠检查）和治疗（结肠切除术）以预防恶性肿瘤。
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