小结
定义
病史和体格检查
关键诊断因素
- PDB 家族史
- 无症状
其他诊断因素
- 累及股骨、骨盆和/或颅骨
- 长骨或背部疼痛
- 病理性骨折
- 骨骼畸形（例如额部隆起、下颌前突、骨弯曲）
- 局部体温增加
- 听力损失
- 面部疼痛
- 牙齿松动或咀嚼障碍
- 碱性磷酸酶孤立性升高
危险因素
- PDB 家族史
- 年龄＞50 岁
- 男性（45~74 岁）
诊断性检查
首要检查
- X 线平片
- 骨扫描
- 血清总碱性膦酸酶
- 骨特异性碱性膦酸酶
- 血清钙
- 血清原胶原 1 N-端肽 (P1NP)
- I 型胶原血清 C-端前肽 (CTX)
- 肝功能检测
- 血清 25 -羟基维生素 D
需考虑的检查
- CT 扫描或 MRI
- 骨活检
治疗流程
无症状患者，偶然诊断
有症状患者
撰稿人
作者
Roberto Civitelli, MD
Sydney M. & Stella H. Schoenberg Professor of Medicine
Professor of Orthopaedic Surgery and Cell Biology and Physiology
Chief, Division of Bone and Mineral Diseases
Musculoskeletal Research Center
Washington University School of Medicine
St. Louis
MO
利益声明
RC is Editor-in-Chief of the Journal of Bone and Mineral Research (position ending 31/12/2022).
Mahshid Mohseni, MD, MSci
Assistant Professor
Director, Clinical Research Unit
Co-Director, Clinical Operations
Division of Bone and Mineral Diseases
Department of Medicine
Washington University School of Medicine
St. Louis
MO
利益声明
MM declares that he has no competing interests.
鸣谢
Dr Roberto Civitelli and Dr Mahshid Mohseni would like to gratefully acknowledge Dr Julia F. Charles, Dr Camilo Restrepo, and Dr Javad Parvizi, previous contributors to this topic.
利益声明
JFC has received royalties from Up To Date, Waltham, MA, for authorship on articles relating to PDB; received grant funding from the National Institues of Health, the Rheumatology Research Foundation, and Brigham and Women's Hospital for research into regulation of osteoclast function, but not specifically relating to PDB; and had a manuscript published from a collaboration with Dr Jae Shim describing a pagetic phenotype in mice with osteoclast-specific loss of Chmp5. CR and JP are authors of a reference cited in this topic.
同行评议者
Frederick Singer, MD
Director
Endocrine/Bone Disease Program
John Wayne Cancer Institute
Santa Monica
CA
利益声明
FS declares that he has no competing interests.
Joseph Lane, MD
Orthopaedic Surgeon
Hospital for Special Surgery
New York
NY
利益声明
JL declares that he has no competing interests.
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