α-1 抗胰蛋白酶缺乏

最后审阅: 21 四月 2022
最后更新: 17 三月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 排痰性咳嗽
  • 劳累时呼吸急促
  • 当前吸烟者
  • 瓦斯、烟雾以及/或尘土的暴露
  • 肝肿大
  • 腹水
  • 意识模糊
更多 关键诊断因素

其他诊断因素

  • 32-41岁年龄
  • 男性
  • 哮鸣音
  • 胸部充气过度
  • 巩膜黄疸/黄疸
  • 扑翼样震颤
其他诊断因素

危险因素

  • AAT 缺乏的家族史
更多 危险因素

诊断性检查

首要检查

  • 血浆AAT水平
  • 肺功能测试
  • 胸部 X 线检查
  • 胸部 CT
  • 肝功能检查 (LFT)
更多 首要检查

需考虑的检查

  • 表型分型
  • 基因分型
  • 基因测序
  • 运动试验及动脉血气分析
  • 甲胎蛋白
  • 肝脏超声
  • 腹部 CT
更多 需考虑的检查

治疗流程

持续性治疗

低血浆AAT

撰稿人

作者

D. Kyle Hogarth, MD, FCCP
D. Kyle Hogarth

Professor

Pulmonary and Critical Care

University of Chicago

Chicago

IL

利益声明

DKH has given lectures for Grifols and Takeda, makers of alpha-1 antitrypsin related products. He serves on the data safety and monitoring board for a study conducted by InhibRx and is the principal investigator for studies sponsored by Vertex and Takeda. DKH is an author of a number of references cited in this topic.

鸣谢

Dr D. Kyle Hogarth would like to gratefully acknowledge Dr Paul J. Hutchison, a previous contributor to this topic. PJH declares that he has no competing interests.

同行评议者

Jane Deng, MD

Assistant Professor of Medicine

David Geffen School of Medicine at UCLA

Los Angeles

CA

利益声明

JD declares that she has no competing interests.

Franck Rahaghi, MD

Chair of Quality

Director

Pulmonary Hypertension Clinic

Head

Pulmonary Education and Rehabilitation

Department of Pulmonary, Allergy and Critical Care

Cleveland Clinic Florida

Weston

FL

利益声明

FR has been a consultant and speaker and has received funding from Baxter Healthcare and CSL Behring.

Graeme P. Currie, MD, FRCP

Consultant Chest Physician

Aberdeen Royal Infirmary

Aberdeen

UK

利益声明

GPC declares that he has no competing interests.

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