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
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
危险因素
- family history
- female sex
- drugs
- elevated progesterone levels
- decreased caloric or carbohydrate intake
- smoking
- age >13 years
- alcohol
诊断性检查
首要检查
- urinary porphobilinogen (PBG) and total porphyrins
- serum PBG
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
治疗流程
mild acute attack
severe acute attack
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.
鉴别诊断
- Other conditions that cause abdominal pain
- Delta-aminolevulinate dehydratase deficiency porphyria
- Hereditary coproporphyria
更多 鉴别诊断指南
- Diagnosis of acute hepatic porphyrias
- Management of acute hepatic porphyrias
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