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[家族性结肠息肉病中的先天性视网膜色素上皮肥大。一个家族的研究]

[Congenital hypertrophy of retinal pigment epithelium in familial colonic polyposis. Study of a family].

作者信息

Ramia Angel J M, Montero Rodríguez M, Ramírez Fe C, Sáenz Regalado D, Villeta Plaza R, Alcalde Escribano J, Morales Gutiérrez C, Abad Barahona A

机构信息

Servicio de Cirugía General y Aparato Digestivo A, Hospital Universitario 12 de Octubre, Madrid.

出版信息

Rev Esp Enferm Dig. 1993 Nov;84(5):297-9.

PMID:8305256
Abstract

In the last years the relationship between congenital hypertrophy of retinal pigment epithelium (CHPRE) and familial adenomatous polyposis (FAP) has been described. It has been said that ophthalmoscopy would be a good screening method for following up the relatives of patients with FAP. We present an ophthalmoscopic study of 14 member of a family with FAP. Four members with FAP were operated on in our department. Only a six years-old child, to this date without FAP, presented CHPRE. We review the relationship between FAP and CHPRE, and emphasize the importance of follow-up in FAP specially when CHPRE is present.

摘要

近年来,视网膜色素上皮先天性肥大(CHPRE)与家族性腺瘤性息肉病(FAP)之间的关系已被描述。有人认为,检眼镜检查将是对FAP患者亲属进行随访的一种良好筛查方法。我们对一个患有FAP的家族的14名成员进行了检眼镜检查研究。该家族中有4名患有FAP的成员在我们科室接受了手术。只有一名6岁儿童,目前尚无FAP,但出现了CHPRE。我们回顾了FAP与CHPRE之间的关系,并强调了对FAP进行随访的重要性,特别是当存在CHPRE时。

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