急性间歇性卟啉病1例报道并文献复习  

Acute intermittent porphyria: one case report and literature review

作　　者：黄紫庆 曾腾[2] 孙雪峰[1] 刘燕兵[1] 李勇[1] 申旭牧 李亮[1] 江明万[1] 

机构地区：[1]重庆三峡中心医院消化内科,重庆404000 [2]重庆市第五人民医院感染科

出　　处：《胃肠病学和肝病学杂志》2017年第3期356-358,共3页Chinese Journal of Gastroenterology and Hepatology

摘　　要：急性间歇性血卟啉(acute intermittent porphyria,AIP)是一种以腹痛、自主神经功能紊乱、低钠血症、肌无力、精神症状等为主要表现的临床综合征,它是由于血红素合成中卟胆原脱氨酶功能缺陷引起的血红素合成异常,导致卟啉类物质在体内过度蓄积引起不同症状。腹痛症状重、体征轻、影像学检查多无异常,腹痛、精神异常是该病诊断的关键。该病发病率低、症状个体化,极易被误诊、漏诊,该病的预后较好,但处理不及时常引起严重的后果。现报道1例AIP患者,并对文献进行复习,以提高临床医师的诊治能力。Acute intermittent porphyria （ALP） is a clinical syndrome including stomachache, dysfunction of autonomic nervous system, hyponatremia, myasthenia, psychotic symptoms etc. It is due to the deficiency of the enzyme porphobilinogen in the haemoglobin synthetic process, the abnormal accumulation of porphyrin lead to different systems. It＇ s clinical characteristics include serious clinical symptoms, mild physical symptom, normal imageological examination, stomachache and psychotic symptoms are the keys to diagnose this disease. Low morbidity, individualization system lead to easily misdiagnose or missed diagnose this disease. It have good prognosis in the early but could lead to sever consequences without timely treatment. Now, we reported one case of AIP, and made literature review, in order to improve the diagnosis ability of clinical physician.

关 键 词：急性间歇性血卟啉病 腹痛 癫痫 

分 类 号：R57[医药卫生—消化系统]