先天性巨结肠

最后审阅: 28 八月 2022
最后更新: 21 十二月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 呕吐
  • 暴发性排出液态且恶臭的粪便
  • 腹胀
  • 胎粪排出延迟
  • 发热
  • 生长迟缓
更多 关键诊断因素

其他诊断因素

  • 脓毒性休克
其他诊断因素

危险因素

  • 唐氏综合征
  • IIA 型多发性内分泌肿瘤
  • 男性
  • 基因突变(10 号和 21号染色体)
更多 危险因素

诊断性检查

首要检查

  • 腹部平片
  • 对比灌肠
更多 首要检查

需考虑的检查

  • 直肠活检
  • 肛门直肠测压
更多 需考虑的检查

治疗流程

急症处理

典型(直肠乙状结肠)/长段疾病:无小肠结肠炎

典型(直肠乙状结肠)/长段疾病:发生小肠结肠炎

全结肠无神经节细胞症

短段疾病

撰稿人

作者

Andrea Bischoff, MD

Pediatric Surgeon

Director of the International Center for Colorectal and Urogenital Care

Children's Hospital Colorado

Associate Professor of Surgery

University of Colorado

Aurora

CO

利益声明

AB is a co-author of several references cited in this topic.

Alberto Peña, MD

Pediatric Surgeon

International Center for Colorectal and Urogenital Care

Children's Hospital Colorado

Professor of Surgery

University of Colorado

Aurora

CO

利益声明

AP is a co-author of several references cited in this topic.

鸣谢

Dr Andrea Bischoff and Dr Alberto Peña would like to gratefully acknowledge Dr Marc A. Levitt, a previous contributor to this topic. MAL declares that he has no competing interests.

同行评议者

Ivo de Blaauw, MD, PHD

Pediatric Surgeon

Radboud University Nijmegen

Academic Medical Center

Nijmegen

Netherlands

利益声明

IdB declares that he has no competing interests.

Jose Manuel Tovilla, MD

Colorectal Pediatric Surgeon

Chief of the Colorectal Clinic

Hospital Infantil de Mexico Federico Gomez

Mexico

利益声明

JMT declares that he has no competing interests.

Daniel P. Doody, MD

Pediatric Surgeon

Department of Pediatric Surgery

Massachusetts General Hospital

Boston

MA

利益声明

DPD declares that he has no competing interests.

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