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黑斑息肉综合征:是否需要进行家族筛查?

Peutz-Jeghers syndrome: is family screening needed?

作者信息

Baumgartner G, Neuweiler J, Herzog D

机构信息

Klinik für Kinderchirurgie, Ostschweizer Kinderspital St. Gallen, Switzerland.

出版信息

Pediatr Surg Int. 2000;16(5-6):437-9. doi: 10.1007/s003839900296.

Abstract

In a 7-year-old boy, a small-bowel polyp was found intraoperatively as a lead point of an intussusception. Histologically, a hamartoma was found and the clinical work-up revealed Peutz-Jeghers syndrome (PJS). Additionally, all four asymptomatic siblings showed intestinal polyposis. All children in a family with PJS should be properly investigated. In case of an intussusception with a polyp in a critical location, a surgical procedure should follow.

摘要

在一名7岁男孩中,术中发现一个小肠息肉作为肠套叠的起始点。组织学检查发现是错构瘤,临床检查显示为佩-吉二氏综合征(PJS)。此外,所有4名无症状的兄弟姐妹均表现出肠道息肉病。PJS家庭中的所有儿童都应进行适当检查。如果在关键部位出现伴有息肉的肠套叠,应采取手术治疗。

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