误诊为癫痫的急性间歇性卟啉病原因分析

Analysis of the Causes of Acute Intermittent Porphyria Misdiagnosed as Epilepsy

目的探讨急性间歇性卟啉病(AIP)误诊为癫痫的原因,以降低临床误诊率。方法回顾性分析2022年9月收治的1例初诊为癫痫后证实为AIP患者的病例资料。结果本例女性,34岁。以反复剧烈腹痛、恶心、呕吐2年为主要表现,病程中有反复癫痫发作、意识丧失,发作性血压升高,误诊为癫痫,予以抗癫痫药物治疗6个月后上述症状仍反复发作。入院后查电解质提示重度低钠血症,结合患者每次发作多于月经前开始、尿液颜色较深等特点,进一步检查尿胆色素原日晒实验(+),基因检测显示羟甲基胆素合成酶基因变异,明确诊断为AIP。误诊时间2年3个月。经补钠结合高碳水化合物饮食治疗后,患者症状明显好转出院,随访至今病情未再发作。结论AIP是一类发病率低、极易误诊或漏诊的疾病,临床表现无特异性。如有不明原因的发作性严重腹痛、恶心、呕吐,合并难以纠正的低钠血症、癫痫发作等,应考虑该疾病,并尽早进行基因筛查,多学科合作诊疗,可以取得较好的预后。

Objective To explore the causes of acute intermittent porphyria(AIP)misdiagnosed as epilepsy,in order to reduce the clinical misdiagnosis rate.Methods Retrospective analysis was performed on the case data of a patient diagnosed with epilepsy and confirmed as AIP in September 2022.Results The patient was a 34-year-old female.Recurrent severe abdominal pain,nausea and vomiting for 2 years were the main manifestations.During the course of the disease,there were recurrent seizures,loss of consciousness,and episodic hypertension,which was misdiagnosed as epilepsy.The above symptoms still occurred repeatedly at 6 months after treatment of anti-epileptic drugs.After admission,electrolyte examination indicated severe hyponatremia,combined with the patient's characteristics of more episodes before menstruation and darker urine color,further examination of urobilinogen sun exposure test(+),and genetic test that showed mutations in hydroxymethylbilin synthetase gene,the diagnosis of AIP was confirmed.The misdiagnosis lasted 2 years and 3 months.After sodium supplementation combined with high-carbohydrate diet,the patient's symptoms improved significantly,and they were discharged from the hospital,with no occurrence based on follow-up.Conclusion AIP is a kind of disease with low incidence,which is prone to misdiagnosis or missed diagnosis,and its clinical manifestations are non-specific.If there are unexplained episodes of severe abdominal pain,nausea,vomiting,complicated with hyponatremia that is difficult to treat,and seizures,the disease should be considered,and genetic screening as early as possible,and multidisciplinary cooperation in diagnosis and treatment can ensure a better prognosis.