最后审阅: 3 十一月 2021
最后更新: 08 八月 2018

小结

定义

病史和体格检查

其他诊断因素

  • 反复感染史
  • 疲劳
  • 苍白
  • 出血或易发瘀斑史
  • 心动过速
  • 呼吸困难
  • 持续性疣
  • 听力丧失或耳聋
  • 身材矮小、色素沉着异常或泌尿生殖系统畸形
  • 指甲畸形、网状皮疹、口腔白斑或泪溢症
  • 骨质疏松症
  • 过早脱发/过早白发
  • 多汗
  • 吞咽困难
  • 大量的龋齿或牙齿脱落
  • 脂肪痢
  • 骨发育不良
  • 单核细胞减少
  • 非结核性分枝杆菌感染
  • 肺泡蛋白沉积症
  • 先天性淋巴水肿、Emberger 综合征
  • 免疫缺陷(DCML-树突细胞、单核细胞、B 细胞和NK 细胞缺乏)

危险因素

  • 药物或毒素暴露
  • 阵发性睡眠性血红蛋白尿 (PNH)
  • 近期肝炎
  • 妊娠
  • 自身免疫性疾病
  • 家族史

诊断性检查

首要检查

  • 全血细胞计数及分类计数
  • 网织红细胞计数
  • 骨髓活组织检查和细胞遗传学分析

需考虑的检查

  • 血清 B12 和叶酸水平
  • HIV 检测
  • 肝功能检查 (LFTs)
  • 自身抗体筛查
  • 糖基磷脂酰肌醇 (GPI)-锚定蛋白流式细胞仪
  • 胸部 X 线检查
  • 腹部超声
  • 适当的遗传学检测
  • 计算机断层 (CT) 扫描

治疗流程

撰稿人

作者

Judith C. W. Marsh, MD, FRCP, FRCPath

Professor of Haematology

Consultant Haematologist

Department of Haematological Medicine

King's College Hospital NHS Foundation Trust

King’s College London

London

UK

利益声明

JCWM has received fees for consulting for Novartis Global, Amgen, and GSK and has also consulted for Pfizer and Sanofi; received a fee for lectures given for Novartis and has also given lectures for Alexion and Sanofi; was awarded a research grant from Sanofi for King’s College London and has a research grant from GSK/Novartis awaiting final approval; and has received travel expenses from Novartis and Adienne to attend meetings.

Austin G. Kulasekararaj, MD, MRCP, FRCPath

Consultant Haematologist

Department of Haematological Medicine

King's College Hospital NHS Foundation Trust

London

UK

利益声明

AGK is on the Speakers' Panel and Advisory Board for Novartis, Pfizer, Alexion, and Celgene. He is an author of a reference cited in the monograph.

鸣谢

Professor Marsh and Dr Kulasekararaj would like to gratefully acknowledge the assistance of Dr Ziyi Lim, Dr Philippe Armand, and Professor Joseph H. Antin, previous contributors to this monograph. ZL, PA, and JHA declare that they have no competing interests.

同行评议者

Christoph Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

利益声明

CP declares that he has no competing interests.

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