Diagnosis and Treatment of Acute Intermittent Porphyria

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 misdiagn...

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Bibliographic Details
Published inZhōngguó yīxué kēxuéyuàn xuébào Vol. 39; no. 6; p. 836
Main Authors Bai, Jie, Wang, Zhi Hong
Format Journal Article
LanguageChinese
English
Published China 20.12.2017
Subjects
Humans
Hydroxymethylbilane Synthase
Porphyria, Acute Intermittent
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ISSN1000-503X
DOI10.3881/j.issn.1000-503X.2017.06.017

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Summary: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.
ISSN:1000-503X
DOI:10.3881/j.issn.1000-503X.2017.06.017