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急性下消化道出血后家族性腺瘤性息肉病的迟发诊断:一例报告

Late Diagnosis of Familial Adenomatous Polyposis After Acute Lower Gastrointestinal Bleeding: A Case Report.

作者信息

Logetto Caetité Gomes Igor, Silva Freire Junior Rômulo, Solidade Barreto Luma, Carlos Cerqueira de Almeida Filho Luiz, Alves Galvão Victor

机构信息

Gastrointestinal Bleeding Center, Cleriston Andrade General Hospital, Feira de Santana, BRA.

出版信息

Cureus. 2024 Dec 27;16(12):e76467. doi: 10.7759/cureus.76467. eCollection 2024 Dec.

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by the progressive development of multiple adenomatous polyps along the colon. The majority of individuals develop colorectal cancer by the age of 40 within the evolutionary course of the disease. For this reason, screening family members is essential to enable identification, surveillance, and appropriate intervention. Colonoscopy is an essential examination in the follow-up of these patients. This case report aims to present an unusual case of a patient diagnosed with FAP after acute lower gastrointestinal bleeding at the age of 52. The recovery of the family history and the identification of multiple members with a mutation in the adenomatous polyposis coli (APC) gene supported the diagnosis.

摘要

家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传性疾病,其特征是结肠内多发性腺瘤性息肉的逐渐发展。在该疾病的演变过程中,大多数患者在40岁时会发展为结直肠癌。因此,筛查家庭成员对于识别、监测和适当干预至关重要。结肠镜检查是这些患者随访中的一项重要检查。本病例报告旨在介绍一例不寻常的病例,一名52岁的患者在急性下消化道出血后被诊断为FAP。家族史的追溯以及对多名携带腺瘤性息肉病(APC)基因突变成员的识别支持了这一诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a94/11767535/71bef9a10613/cureus-0016-00000076467-i01.jpg

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