peutz - jegers综合征患者的小肠腺癌

A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko
{"title":"peutz - jegers综合征患者的小肠腺癌","authors":"A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko","doi":"10.30629/0023-2149-2023-101-6-315-318","DOIUrl":null,"url":null,"abstract":"Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000.  The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.","PeriodicalId":10439,"journal":{"name":"Clinical Medicine (Russian Journal)","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Adenocarcinoma of the small intestine in a patient with Peutz-Jeghers syndrome\",\"authors\":\"A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko\",\"doi\":\"10.30629/0023-2149-2023-101-6-315-318\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000.  The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.\",\"PeriodicalId\":10439,\"journal\":{\"name\":\"Clinical Medicine (Russian Journal)\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine (Russian Journal)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30629/0023-2149-2023-101-6-315-318\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine (Russian Journal)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30629/0023-2149-2023-101-6-315-318","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

Peutz-Jeghers综合征是一种常染色体显性遗传的遗传病,以STK11基因突变为特征。根据国内文献,父母将这种病理遗传给孩子的风险为50%。根据世卫组织的数据,2018年,俄罗斯联邦新发现的结直肠肿瘤病例超过7.4万例,其中5-10%为遗传性综合征,其中1%为Peutz-Jeghers综合征。发生的频率大约是1/29,000-1/120,000。这项工作的目的是分享诊断和治疗Peutz-Jeghers综合征患者的经验。今天,我们有能力及时诊断小肠粘膜的病理变化,进行微创治疗,减少手术创伤,缩短康复时间。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Adenocarcinoma of the small intestine in a patient with Peutz-Jeghers syndrome
Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000.  The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Maksimov and the development of the theory of hematopoiesis ( on the 150th anniversary of his birth) Problems of diagnosis and treatment of Connshing syndrome In memory of Valery Grigorievich Demikhov Diagnosis and treatment of acute appendicitis in patients with the new coronavirus infection COVID-19 Tuberous sclerosis. Clinical observation of a 10-year-old girl
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1