Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica ›› 2017, Vol. 39 ›› Issue (6): 836-840.doi: 10.3881/j.issn.1000-503X.2017.06.017

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Diagnosis and Treatment of Acute Intermittent Porphyria

Jie BAI, Zhihong WANG()   

  1. Department of Endocrinology,the First Affiliated Hospital of Chongqing Medical University,Chongqing 400016,China
  • Received:2017-07-05 Online:2017-12-20 Published:2017-12-20
  • Supported by:
    Supported by the Project of National Clinical Key Specialties Construction of China ([2011]170),and the Young and Middle-age High-end Medical Reserve Personnel Training Plan Foundation of Chongqing,China (Yuweiren[2015]49)

Abstract:

Acute intermittent porphyria (AIP) is a metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase. Its clinical manifestations include acute abdominal pain,neuropsychological abnormalities,and red urine. Due to its low incidence and varied clinical symptoms,the rates of misdiagnosis and mistreatment were particularly high. Biochemical testing and gene detection contribute to diagnosis. Management strategies include intravenous administration of human haemin,carbohydrate loading and symptomatic treatment.

Key words: acute intermittent porphyria, diagnosis, treatment

CLC Number: