急性间歇性卟啉病在妇科领域的诊治进展

Progress in diagnosis and treatment of acute intermittent porphyria in gynecology

急性间歇性卟啉病(acute intermittent porphyria,AIP)是一种罕见的代谢性疾病,主要由羟甲基胆素合成酶(hydroxymethylbilane synthase,HMBS)缺陷引起,严重影响血红素的生物合成。AIP以剧烈腹痛和神经系统症状为特征,急性发作可能导致严重并发症甚至危及生命。尽管AIP的发病率较低,但患者的生活质量显著下降,同时心理负担显著增加,需引起临床关注。诊断AIP主要依赖实验室检测,预防和治疗策略包括避免诱发因素、血红素替代治疗和激素调节。促性腺激素释放激素激动剂(gonadotropin-releasing hormone agonists,GnRH-a)和激素回补治疗在管理与月经相关的AIP发作中已显示出有效性,但需要密切监测以减少不良反应。本文综述了AIP的病理生理学、临床特点和诊断流程,并探讨其预防及治疗策略。

Acute intermittent porphyria(AIP)is a rare metabolic disorder primarily caused by a deficiency in hydroxymethylbilane synthase(HMBS),which severely impairs heme biosynthesis.AIP is characterized by severe abdominal pain and neurological symptoms,with acute attacks potentially leading to serious complications and life-threatening conditions.Although the prevalence of AIP is low,patients experience a significant decline in quality of life and bear considerable psychological burden,warranting close clinical attention.Diagnosis of AIP primarily relies on laboratory testing.Preventive and therapeutic strategies include avoidance of triggering factors,heme replacement therapy,and hormonal regulation.gonadotropin-releasing hormone agonists(GnRH-a)and hormone replacement therapy have shown efficacy in managing AIP attacks associated with the menstrual cycle,but close monitoring is necessary to mitigate adverse effects.This article reviews the pathophysiology,clinical features,and diagnostic approach of AIP,and explores its prevention and treatment strategies.