Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis
Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis
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先天性视网膜色素上皮肥大作为家族性腺瘤性息肉病的标志
DOI：
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发表时间：
1988
影响因子：
3.9
通讯作者：
J. Parker
中科院分区：
文献类型：
--
作者：
T. Berk;Z. Cohen;R. McLeod;J. Parker
对 50 名患者进行了先天性视网膜色素上皮肥大 (CHRPE) 评估，作为家族性腺瘤性息肉病 (FAP) 的潜在表型标志物，伴或不伴其他结肠外表现 (ECM)。这种眼部异常的特点是多发性、良性和先天性，分三组进行了研究。第 1 组包含 8 名非息肉性结肠癌患者作为疾病对照。所有人的眼部检查结果均为阴性。第 2 组包括 40 名 FAP 患者，其中 35 名（87.5%）患有视网膜病变。 25 名仅患有 FAP 的患者中，有 22 名患有视网膜病变，而 15 名患有 FAP 和结肠外表现的患者中，有 13 名患有类似的影响。第 3 组包括 11 名有 FAP 风险的后代。八个（72.7%）后代患有视网膜病变。八名具有眼部特征的受试者中的一名随后被诊断为 FAP。八名患者中的两名还患有其他 ECM，但未接受乙状结肠镜检查以诊断 FAP。 11 个后代中有 7 个（平均年龄 12.5 岁）的可屈性乙状结肠镜检查呈阴性。在对高危人群进行随访时发现随后的腺瘤之前，无法确定 FAP 视网膜病变的特异性。负责 CHRPE 的基因似乎从一代传给另一代，单独患有 FAP 和患有其他 ECM 的患者的视网膜病变的高敏感性证明了这一点。
Fifty patients were assessed for congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a potential phenotypic marker for familial adenomatous polyposis (FAP), with and without other extracolonic manifestations (ECM). The ocular anomaly, which characteristically is multiple, benign, and congenital, was studied in three groups. Group 1 contained eight patients with nonpolyposis colon cancer as disease controls. All had negative eye findings. Group 2 included 40 patients with FAP, 35 (87.5 percent) of whom had retinal lesions. Twenty-two of 25 patients with FAP alone had retinal lesions while 13 of 15 patients with FAP and extracolonic manifestations were similarly affected. Group 3 included 11 offspring at risk for FAP. Eight (72.7 percent) offspring had retinal lesions. One of the eight subjects with the ocular trait was subsequently diagnosed with FAP. Two of the eight patients also had other ECM but have not been sigmoidoscoped for FAP. Seven of 11 offspring (mean age, 12.5 years) have had negative flexible sigmoidoscopy. Specificity of the retinal lesions in FAP cannot be ascertained until subsequent adenomas are identified on follow-up of the group at risk. The gene responsible for CHRPE appears to be transmitted from one generation to another, demonstrated by the high sensitivity of the retinal lesions in patients with FAP alone and with other ECM.
家族性息肉病大肠杆菌中的 IgG 重链 (Gm) 同种异型。
影响因子：
9.8
作者：
Pandey,JP;Ebbesen,P;Bülow,S;Svendsen,LB;Fudenberg,HH
通讯作者：
Fudenberg,HH