Peutz-Jeghers综合征
医学
STK11段
肠套叠(内科疾病)
肠镜检查
粘膜皮肤区
内科学
皮肤病科
胃肠病学
癌症
疾病
外科
结直肠癌
内窥镜检查
克拉斯
作者
Ilja Tachecí,Marcela Kopáčová,Jan Bureš
出处
期刊:Current Opinion in Gastroenterology
[Ovid Technologies (Wolters Kluwer)]
日期:2021-02-11
卷期号:37 (3): 245-254
被引量:32
标识
DOI:10.1097/mog.0000000000000718
摘要
Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1 (STK11/LKB1) genes. Hamartomatous polyps located throughout the gastrointestinal tract can be complicated by bleeding and small bowel intussusception, potentially leading to the need for emergency surgery. Individuals suffering from Peutz-Jeghers syndrome have an increased lifetime risk of various forms of cancer (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular). Surveillance should lead to the prevention of complications and thus a reduction in mortality and morbidity of patients.A combined approach based on wireless capsule endoscopy, magnetic resonance enterography and device-assisted enteroscopy is effective in reduction of the polyp burden and thus decreasing the risk of bleeding and intussusception. Current guidelines for screening and surveillance are mostly based on expert opinion rather than evidence.Peutz-Jeghers syndrome is an emerging disease that significantly affects the quality of life enjoyed by patients. Despite of all the progress in improved early diagnostics, options for advanced endoscopic therapy and elaborate surveillance, acute and chronic complications decrease the life expectancy of patients suffering from Peutz-Jeghers syndrome.
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