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
- 皮肤粘膜色素沉着
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
危险因素
- 阳性家族史
- STK11基因种系突变
诊断性检查
首要检查
- 内镜检查
- 磁共振小肠造影
- 息肉的组织学
- STK11遗传学检测
治疗流程
首次确诊的息肉：有症状或无症状
首次结肠镜后
撰稿人
作者
Luke Engelking, MD
Associate Professor of Internal Medicine
UT Southwestern Medical Center
Dallas
TX
利益声明
LE is a Principal Investigator for, and has received grant support from, the National Institutes of Health-National Institute of Diabetes and Digestive and Kidney Diseases (NIH-NIDDK) and the Cancer Prevention and Research Institute of Texas.
Po-Hong Liu, MD
Fellow
UT Southwestern Medical Center
Dallas
TX
利益声明
PL declares that he has no competing interests.
鸣谢
Dr Luke Engelking and Dr Po-Hong Liu would like to gratefully acknowledge Dr Brandie Heald, Dr James Church, and Dr Carol A. Burke, previous contributors to this topic.
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. JC declares that he has no competing interests. 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.
鉴别诊断
- 青少年息肉综合征
- PTEN错构瘤综合征
- 遗传性混合息肉病综合征
更多 鉴别诊断指南
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