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Acute intermittent porphyria

最后审阅: 13 Feb 2025
最后更新: 05 Sep 2023

小结

定义

病史和体格检查

关键诊断因素

  • abdominal pain
  • tachycardia
  • hypertension
  • dark or red urine
完整详情

其他诊断因素

  • nausea
  • vomiting
  • abdominal distension
  • constipation
  • urinary hesitancy and dysuria
  • pain in extremities, back, and chest
  • proximal muscle weakness
  • painful hyperesthesia
  • mental symptoms
  • seizures
  • diarrhea
  • quadriparesis
  • respiratory failure
完整详情

危险因素

  • family history
  • female sex
  • drugs
  • elevated progesterone levels
  • decreased caloric or carbohydrate intake
  • smoking
  • age >13 years
  • alcohol
完整详情

诊断性检查

首要检查

  • urinary porphobilinogen (PBG) and total porphyrins
  • serum PBG
完整详情

需考虑的检查

  • delta-aminolevulinic acid (ALA)
  • plasma total porphyrins (including plasma fluorescence scanning)
  • urinary porphyrins using high-performance liquid chromatography (HPLC)
  • fecal total porphyrins (if elevated, fractionation of individual porphyrins by HPLC)
  • fecal porphyrins using HPLC
  • erythrocyte porphobilinogen deaminase activity
  • porphobilinogen deaminase/hydroxymethylbilane synthase gene sequencing
  • serum sodium levels
  • CT or MRI brain
完整详情

治疗流程

急症处理

mild acute attack

severe acute attack

持续性治疗

recurrent noncyclic attacks

women with frequent recurrent cyclic attacks

nonresponsive to medical therapy

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 several references cited in this topic.

Karl E. Anderson, MD

Professor

Department of Internal Medicine, Division of Gastroenterology and Hepatology

University of Texas Medical Branch

Galveston

TX

利益声明

KEA reports receiving lecture fees, consulting fees, advisory board fees, and grants to the university from Alnylam, Recordati, Mitsubishi, and Disc Medicine. He is an author of several references cited in this topic.

同行评议者

Alexios Carayannopoulos, MD

Medical Director

Spine Center

Interventional Spine Physiatrist

Pain Medicine Specialist

Burlington

MA

利益声明

AC declares that he has no competing interests.

Kenneth E.L. McColl, MD, FRCP

Professor of Medical Sciences

Gardiner Institute

Western Infirmary

Glasgow

UK

利益声明

KELM declares that he has no competing interests.

Neville Pimstone, MD

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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