典型家族性腺瘤性息肉综合征患者胃十二指肠内镜检查的重要性

S. Fatemi, N. Salarieh, A. Farahani, S. A. Fatemi, Shahram Ebadi
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摘要

背景:家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传病,由大肠腺瘤性息肉病(APC)基因突变引起。FAP的特征是结肠内出现多个腺瘤性息肉(>100)。本研究的目的是评估在伊朗德黑兰的教学转诊中心Taleghani医院就诊的FAP患者胃十二指肠息肉的患病率。材料与方法:对33例FAP患者行前、侧视内窥镜检查。所有患者均行乳头活检。收集并报告息肉部位、数量、大小、组织学表现、患者一般信息(性别、年龄、FAP/结直肠癌/胃十二指肠息肉家族史)。研究中的28例患者在5年后再次使用上消化道内窥镜检查息肉特征的变化和可能的息肉转化为癌症的可能性。结果:胃息肉发生率为42.4%。76.45%的患者有基底腺息肉,39.93%的患者有增生性息肉。30.3%的患者发现十二指肠腺瘤,其中管状腺瘤伴低级别不典型增生,管状绒毛腺瘤伴低级别不典型增生分别占60%和45%。结论:本研究结果表明,在医院就诊的FAP患者中,胃十二指肠息肉的患病率较高,十二指肠息肉存在发育不良。因此,对FAP患者进行常规胃十二指肠内镜检查是必要的。
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Importance of Gastroduodenal Endoscopic Findings in Patients with Classic Familial Adenomatous Polyposis Syndrome
Background:  Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by a mutation in the adenomatous polyposis coli (APC) gene. FAP is characterized by development of multiple adenomatous polyps (>100) in the colon. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in FAP patients referred to the Taleghani hospital, a teaching referral center in Tehran, Iran. Materials and Methods: Front-view and side-view endoscopies were performed in 33 FAP patients. Papillary biopsies were taken for all patients. Site of polyps, their number and size, histologic findings, patient general information (gender, age and family history of FAP/colorectal cancer/gastroduodenal polyps) were collected and reported. 28 patients of the study were evaluated using upper GI endoscopy again after 5 years for changes in characteristics and probable transformation of polyps into cancer. Results: Gastric polyps were seen in 42.4 % of patients. 76.45% of the patients had fundic gland polyps and hyperplastic polyps were noticed in 39.93% of them. Duodenal adenomas were found in 30.3% of patients which were reported to be tubular adenomas with low grade dysplasia and tubulovillous adenomas with low grade dysplasia in 60% and 45% of patients, respectively. Conclusions: Findings of this study bespeak the high prevalence of gastroduodenal polyps and the presence of dysplasia in duodenal polyps among FAP patients referred to the hospital. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.
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