Diagnosis and Treatment of Acute Intermittent Porphyria.
10.3881/j.issn.1000-503X.2017.06.017
- VernacularTitle:急性间歇性卟啉病诊治研究进展
- Author:
Jie BAI
1
;
Zhi Hong WANG
1
Author Information
1. Department of Endocrinology,the First Affiliated Hospital of Chongqing Medical University,Chongqing 400016,China.
- Publication Type:Journal Article
- From:
Acta Academiae Medicinae Sinicae
2017;39(6):836-840
- CountryChina
- Language:English
-
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.
