小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
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
非重度获得性疾病
重度/极重度获得性疾病
遗传性骨髓衰竭综合征
撰稿人
作者
Austin G. Kulasekararaj, MD, MRCP, FRCPath
Consultant Haematologist and Honorary Senior Clinical Lecturer
Department of Haematological Medicine
King's College Hospital NHS Foundation Trust and King’s College London
London
UK
利益声明
AGK is on the Speakers' Panel/Advisory Board/has consulted for Novartis, Pfizer, Alexion, Roche, Ra Pharma, BioCryst, and Celgene/BMS. He is an author of a reference cited in this topic. AGK is the unpaid chairman of the writing committee of the British Society of Haematology guidelines on diagnosis and management of adult aplastic anaemia.
鸣谢
Dr Kulasekararaj would like to gratefully acknowledge the assistance of Professor Judith C. W. Marsh, Dr Ziyi Lim, Dr Philippe Armand, and Professor Joseph H. Antin, previous contributors to this topic. ZL, PA, and JHA declared that they had no competing interests. JCWM has received fees for consulting for Novartis Global, Amgen, Alexion, Jazz Pharmaceuticals, 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 received a research grant from Novartis Global; and has received travel expenses from Novartis and Adienne to attend meetings.
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.
鉴别诊断
- 放射性损伤
- 化疗
- HIV 感染
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