最近审阅: 24 十月 2020
最近更新: 07 八月 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
  • 腹痛
  • 心动过速
  • 高血压
  • 深色或红色尿

其他诊断因素

  • 恶心
  • 呕吐
  • 腹胀
  • 便秘
  • 排尿不畅和排尿困难
  • 四肢、背部和胸部疼痛
  • 近端肌肉无力
  • 痛觉过敏
  • 精神症状
  • 惊厥
  • 腹泻
  • 四肢轻瘫
  • 呼吸衰竭

危险因素

  • 家族史
  • 女性
  • 药物
  • 孕酮水平升高
  • 热量或碳水化合物摄入量降低
  • 吸烟
  • 年龄 > 13 岁
  • 酒精

诊断性检查

首要检查

  • 尿卟吩胆色素原 (PBG)
  • 尿胆色素原 (PBG) 定量测量
  • 尿总卟啉
  • 血清胆色素原 (PBG)
更多 首要检查

需考虑的检查

  • δ-氨基乙酰丙酸 (ALA)
  • 血浆总卟啉
  • 高效液相色谱法测定 (HPLC) 尿卟啉
  • 粪总卟啉
  • 高效液相色谱法 (HPLC) 粪卟啉检测
  • 红细胞胆色素原脱氨酶 (PBGD) 活性
  • 胆色素原脱氨酶 (PBGD) 基因测序
  • 血清钠水平
  • 颅脑 MRI 扫描
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.

同行评议者展开全部内容

Medical Director

Spine Center

Interventional Spine Physiatrist

Pain Medicine Specialist

Burlington

MA

利益声明

AC declares that he has no competing interests.

Professor of Medical Sciences

Gardiner Institute

Western Infirmary

Glasgow

UK

利益声明

KELM declares that he has no competing interests.

Professor Emeritus of Medicine

Division of Gastroenterology

UC Davis Medical Group GI Unit

Sacramento

CA

利益声明

NP declares that he has no competing interests.

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