小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 水疱性皮肤病变
其他诊断因素
- 皮肤色素沉着过度
- 多毛症
- 瘢痕性秃发
- 红尿
危险因素
- 中年白人男性
- 饮酒
- 吸烟
- 雌激素疗法
- 丙型肝炎
- HIV
- 遗传性血色病基因 (HFE) 突变
- 尿卟啉原脱羧酶 (UROD) 突变
- 暴露于卤化多环芳香烃
- 抗氧化剂的水平下降
- 终末期肾病
- 糖尿病
诊断性检查
首要检查
- 血浆总卟啉
- 血浆荧光发射
- 尿总卟啉
- 红细胞总卟啉
需考虑的检查
- 通过高效液相色谱法（HPLC）进行血浆卟啉类化合物分离
- 通过 HPLC 进行尿卟啉分馏
- 红细胞尿卟啉原脱羧酶 (UROD) 活性
- 粪卟啉
- DNA 检测
- 肝功能检查
- 血清铁蛋白
- 肝脏活检
- 皮肤活检
- 血清 HIV 酶联免疫吸附测定
- 血清性丙型肝炎表面抗原
- 肌酐
- 尿素
- 红细胞比容
- 血红蛋白
治疗流程
无放血禁忌证
放血禁忌或耐受性不佳
缓解后复发
撰稿人
作者
Gagan Sood, MD
Associate Professor
Department of Medicine and Surgery
Baylor College of Medicine
Houston
TX
利益声明
GS is an author of a number of references cited in this topic.
Karl E. Anderson, MD
Professor
Departments of Preventive Medicine and Community Health and Internal Medicine
University of Texas Medical Branch
Galveston
TX
利益声明
KEA has received grants from the National Institutes of Health, the US Food and Drug Administration, and Alnylam Pharmaceuticals; he is an author of a number of references cited in this topic. KEA has received consulting fees, advisory board fees, and grants to the university from Alnylam Pharmaceuticals; consulting fees, advisory board fees, and grants from Recordati Rare Diseases; and consulting fees and grants from Mitsubishi Tanabe Pharma America.
同行评议者
Robert S. Dawe, MBChB, MRCP(UK), MD(Glasgow)
Consultant Dermatologist
Honorary Clinical Senior Lecturer
Department of Dermatology
Ninewells Hospital & Medical School
Dundee
UK
利益声明
RSD declares that he has no competing interests.
Jeffrey P. Callen, MD
Professor of Medicine (Dermatology)
University of Louisville
Louisville
KY
利益声明
JPC declares that he has no competing interests.
Montgomery Bissell, MD
Professor and Chief
Gastroenterology
University of California
San Francisco
CA
利益声明
MB declares that he has no competing interests.
鉴别诊断
- 多样性卟啉病 (VP)
- 遗传性粪卟啉病 (HCP)
- 先天性红细胞生成性卟啉病（Congenital Erythropoietic Porphyria, CEP）
更多 鉴别诊断
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