急性间歇性卟啉病诊治研究进展

Diagnosis and Treatment of Acute Intermittent Porphyria

急性间歇性卟啉病是一种因血红素合成途径中的羟甲基胆素合成酶缺乏导致的代谢性疾病。临床表现为急性腹痛、神经精神异常和红色尿等。本病发病率较低,临床表现多变,因此误诊、误治率高。通过对急性发作期的生化检查和基因检测,有助于明确诊断。目前尚无规范的治疗管理,血红素静脉输注、糖原负荷、对症支持治疗是主要的治疗策略。

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.