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无 β 脂蛋白血症

  • 概述
  • 理论
  • 诊断
  • 治疗
  • 随访
  • 资源
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最后审阅： 23 Jun 2024
最后更新： 22 Jul 2022

小结

定义

病史和体格检查

其他诊断因素

  • 0-12 岁年龄段
  • 脂肪痢/腹泻
  • 低体重
  • 肌无力
  • 肌肉收缩
  • 深部腱反射消失
  • 共济失调
  • 辨距不良
  • 构音障碍
  • 夜盲症
  • 视力差
  • 眼肌麻痹
  • 疲劳
  • 皮肤苍白
  • 视盘肿胀
  • 肝肿大
完整详情

危险因素

  • 遗传学
  • 血缘性双亲
完整详情
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诊断性检查

首要检查

  • 空腹血脂检查
  • 血维生素 A、D、E、K 水平
  • 血涂片
  • apo B和MTTP基因检测
完整详情

需考虑的检查

  • 粪便涂片
  • （部分凝血活酶时间）活化部分凝血活酶时间
  • 血清铁水平
  • 肝脏氨基转移酶
  • 小肠活检
  • 直接和间接眼底镜
  • 脊髓电图
  • 诱发电位电反应诊断检测
  • 神经传导研究
完整详情
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治疗流程

持续性治疗

所有患者

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撰稿人

作者

Nicholas Davidson, MD, DSc

Professor of Medicine

Washington University School of Medicine

Saint Louis

MO

利益声明

ND declares that he has no competing interests.

鸣谢

Professor Nicholas Davidson would like to gratefully acknowledge Professor David Leaf for his contribution to this topic.

利益声明

DL declares that he has no competing interests.

同行评议者

David Muller, PhD

Emeritus Professor of Biochemistry

UCL Institute of Child Health

London

UK

利益声明

DM is a co-author of an article referenced in this topic. He has previously received research funding from F Hoffmann-La Roche and Co Ltd for research studies on vitamin E.

Katherine Wu, MD

Associate Professor of Medicine

Division of Cardiology

Johns Hopkins Medical Institutions

Baltimore

MD

利益声明

KW declares that she has no competing interests.

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