Peutz-Jeghers综合征

最后审阅: 29 八月 2022
最后更新: 31 一月 2019

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 小肠梗阻
  • 皮肤黏膜色素沉着
更多 关键诊断因素

其他诊断因素

  • 腹部不适和腹胀
  • 腹痛
  • 胃肠道出血
  • 经肛门息肉脱出
  • 睾丸增大(无包块)
  • 男性双侧乳房发育
  • 疲劳
  • 苍白
  • 心力衰竭的体征
其他诊断因素

危险因素

  • 阳性家族史
  • STK11基因种系突变
更多 危险因素

诊断性检查

首要检查

  • 内镜检查
  • 息肉的组织学
  • STK11遗传学检测
更多 首要检查

治疗流程

急症处理

首次确诊的息肉:有症状或无症状

持续性治疗

首次结肠镜后

撰稿人

作者

Brandie Heald, MS, LGC

Licensed Genetic Counselor

Genomic Medicine Institute

Sanford R. Weiss Center for Hereditary Colorectal Neoplasia

Cleveland Clinic

Cleveland

OH

利益声明

BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment.

James Church, MD

Victor W. Fazio Chair

Department of Colorectal Surgery

Digestive Disease Institute

Cleveland Clinic

Director

Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia

Cleveland Clinic

Cleveland

OH

利益声明

JC declares that he has no competing interests.

Carol A. Burke, MD, FACP, FACG, FASGE

Director

Center for Colon Polyp and Cancer Prevention

Department of Gastroenterology and Hepatology

Associate Director

Sanford R. Weiss Center for Hereditary Colorectal Neoplasia

Section of Polyposis

Digestive Disease Institute

Cleveland Clinic

Cleveland

OH

利益声明

CAB receives research support from Cancer Prevention Pharmaceuticals.

同行评议者

Daniel Von Allmen, MD

Chief of Pediatric Surgery

University of North Carolina

Chapel Hill

NC

利益声明

DVA declares that he has no competing interests.

Patrick Morrison, MD

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

利益声明

PM declares that he has no competing interests.

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