Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series
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DOI：
10.1055/s-0029-1215175
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发表时间：
2009-11-01
期刊：
影响因子：
9.3
通讯作者：
Clark, S. K.
中科院分区：
文献类型：
--
作者：
Postgate, A. J.;Will, O. C.;Clark, S. K.
幼年性息肉病综合征是错构瘤性息肉病综合征之一，并表现出表型异质性。所有青少年息肉病患者都会发展为结直肠息肉，并有患结直肠癌的风险。小肠受累被描述得很清楚。小肠癌有报告，但很罕见，没有小肠监测的循证方案。该病例系列报告了10例记录有幼年型息肉病综合征的成人（7例男性;中位年龄39.2岁，四分位距37.4-42.0岁）的小肠胶囊式内窥镜检查结果和遗传突变分析。2例患者的小肠息肉超出胶囊式内窥镜检查确定的标准胃镜检查范围：1例6 mm回肠息肉，另1例10 mm和6 mm回肠息肉（组织学未知）。第三例患者在胶囊式内窥镜检查中检测到十二指肠息肉。另外3名患者先前在监测胃镜检查中记录了十二指肠息肉。在7名患者中发现了SMAN突变，但与胃/小肠息肉负荷无明显相关性。总之，胶囊式内窥镜为幼年型息肉病综合征患者提供了传统内窥镜检查的额外信息，并且耐受性良好。然而，没有发现需要临床干预的病变，息肉数量较少。胶囊式内窥镜可适当用作基线检查，以识别建议进行小肠检查的大或致密小肠息肉患者。息肉局限于结肠的患者不太可能需要持续的小肠检查。
juvenile polyposis syndrome is one of the hamartomatous polyposis syndromes and demonstrates phenotypic heterogeneity. All patients with juvenile polyposis develop colorectal polyps and are at risk of colorectal cancer. Small-bowel involvement is variably described. Small-intestinal cancer is reported but is rare and there is no evidence-based protocol for small-intestinal surveillance. This case series reports the small-bowel capsule endoscopy findings and genetic mutational analyses of ten adults (7-male; median age 39.2 years, interquartile range 37.4-42.0 years) with documented juvenile polyposis syndrome. Two patients had small-bowel polyps beyond the range of standard gastroscopy identified at capsule endoscopy: a 6-mm ileal polyp in one, and 10-mm and 6-mm ileal polyps in the second (histology unknown). Duodenal polyps were detected in a third patient at capsule endoscopy. Three further patients had previously documented duodenal polyps at surveillance gastroscopy. A SMAN mutation was identified in seven patients but there was no obvious association with gastric/small-bowel polyp burden. In conclusion, capsule endoscopy provided information additional to conventional endoscopy in patients with juvenile polyposis syndrome and was well tolerated. However, no lesions requiring clinical intervention were identified and polyp numbers were small. Capsule endoscopy may appropriately be used as a baseline investigation for the identification of patients with large or dense small-bowel polyps for whom ongoing small-bowel investigation would be recommended. Patients in whom polyps are confined to the colon are unlikely to require ongoing small-bowel review.