最近审阅: 26 十月 2020
最近更新: 29 三月 2018

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
  • 使用雌二醇
  • 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
更多 首要检查

需考虑的检查

  • 通过 HPLC 进行血浆卟啉分离分析
  • 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 (LFT)
  • 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
更多 需考虑的检查

治疗流程

撰稿人

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.

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.

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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.

Professor of Medicine (Dermatology)

University of Louisville

Louisville

KY

利益声明

JPC declares that he has no competing interests.

Professor and Chief

Gastroenterology

University of California

San Francisco

CA

利益声明

MB declares that he has no competing interests.

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