以腹痛、癫痫发作、意识障碍为表现的重症急性间歇性卟啉病1例  

Severe acute intermittent porphyria characterized by abdominal pain,seizures,and consciousness disorders:a case report

作　　者：徐莹 王群[1] Xu Ying;Wang Qun(Department of Neurology,Beijing Tiantan Hospital,Capital Medical University,China National Clinical Research Center for Neurological Diseases,Beijing 100070,China)

机构地区：[1]首都医科大学附属北京天坛医院神经病学中心、国家神经系统疾病临床研究中心,北京100070

出　　处：《中华神经科杂志》2024年第10期1144-1149,共6页Chinese Journal of Neurology

基　　金：科技部十四五常见多发病重大专项(2022YFC2503800);北京自然科学基金(7232045);国家自然科学基金(82371449);首都卫生发展基金(2024-1-2041)。

摘　　要：急性间歇性卟啉病(AIP)是一种HMBS基因突变导致的常染色体显性遗传代谢疾病,临床表现以胃肠道和神经系统受累为主。大部分患者长期结局良好,急性发作通常可以恢复,但部分患者可能反复发作,严重的急性发作可能危及生命。文中报道1例22岁女性患者,感染新型冠状病毒后因不安全用药出现间断腹痛伴呕吐、继发性癫痫发作和进行性加重的意识障碍,结合临床表现及辅助检查确诊为AIP,给予精氨酸血红素、高糖、抗癫痫及抗感染对症治疗后症状好转。报道本病例旨在增强临床医师对该疾病的认识,提高对卟啉病安全用药的重视,改进诊疗手段。Acute intermittent porphyria(AIP)is an autosomal dominant inherited metabolic disorder caused by mutations in the HMBS gene,with clinical manifestations characterized by gastrointestinal and neurological involvement.Most patients have a favorable long-term outcome,and acute episodes usually recover,but some patients may have recurrent episodes,and severe acute episodes may be life-threatening.In this article,a 22-year-old female patient admitted to Beijing Tiantan Hospital of Capital Medical University is reported,who developed intermittent abdominal pain with vomiting,secondary seizures,and progressive aggravation of impaired consciousness due to unsafe medication after infection with COVID-19,and was diagnosed with AIP by combining the clinical manifestations and auxiliary examinations,and was given symptomatic treatments of arginate hemoglobin,hyperglycemia,antiepileptic,and anti-infection.And her symptoms improved.This case is reported to enrich clinicians′understanding of this disease,to increase attention to the safe use of medication in porphyrias,and to improve diagnostic and therapeutic tools.

关 键 词：卟啉病 急性间歇性 癫痫 电解质紊乱 可逆性后部脑病综合征 

分 类 号：R589.8[医药卫生—内分泌]