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加德纳综合征——早期诊断的重要性:一例病例报告及文献综述

Gardner's syndrome--the importance of early diagnosis: a case report and a review.

作者信息

Buch B, Noffke C, de Kock S

机构信息

Department of Diagnostics and Röntgenology, University of Pretoria, PO Box 1266, Pretoria 0001.

出版信息

SADJ. 2001 May;56(5):242-5.

PMID:11490697
Abstract

Gardner's syndrome (familial polyposis coli) is a genetic condition characterised by colonic polyps that carry a 100% risk of malignancy if untreated. Early diagnosis, in which an astute and knowledgeable dentist can play an essential role, is therefore of paramount importance. The presence of multiple unerupted teeth provides the dentist with a major pointer to the possible presence of this disease, which may be provisionally diagnosed on the detection of two other obvious features, namely osteomas and cutaneous lesions. This fact is clearly illustrated by the accompanying case report. Extracolonic manifestations increase the morbidity and make treatment more difficult. The presence of large desmoid tumours may be a serious complicating factor. Gardner's syndrome may be accompanied by adenomas of the stomach and duodenum and very rarely by malignant tumours of the central nervous system. Regular surveillance by means of colonoscopies must be carried out on all individuals suspected of having the disease in order to implement timeous life-saving prophylaxis.

摘要

加德纳综合征(家族性结肠息肉病)是一种遗传性疾病,其特征为结肠息肉,若不治疗,恶变风险为100%。因此,早期诊断至关重要,经验丰富且知识渊博的牙医在其中可发挥关键作用。多个未萌出牙齿的存在为牙医提示了可能患有此病,在检测到另外两个明显特征即骨瘤和皮肤病变时,可初步诊断为此病。随附的病例报告清楚地说明了这一情况。结肠外表现会增加发病率并使治疗更加困难。巨大硬纤维瘤的存在可能是一个严重的复杂因素。加德纳综合征可能伴有胃和十二指肠腺瘤,很少伴有中枢神经系统恶性肿瘤。对于所有疑似患有该病的个体,必须通过结肠镜检查进行定期监测,以便及时实施挽救生命的预防措施。

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