13例急性间歇性卟啉病患者的临床特征和诊疗分析

Clinical Features and Diagnosis with Treatment Analysis of 13 Patients Suffering from Acute Intermittent Porphyria

目的探讨急性间歇性卟啉病(AIP)患者临床特征及诊治方法,以期对AIP进行早期诊断及治疗。方法回顾性分析2010年3月—2017年6月在河北省人民医院住院治疗的13例AIP患者的临床资料、实验室检查结果、治疗方法及治疗效果。结果 13例患者中3例发热;7例恶心、呕吐,呕吐物为胃内容物,无咯血;8例腹部压痛;10例腹痛,排气、排便减少,全身乏力不适,心动过速;患者尿液均呈橘红色,在阳光下暴晒2 h后均变为暗红/酒红色;12例细胞内锌卟啉增高;13例尿卟胆原阳性;8例尿卟啉阳性;10例贫血;6例血钠降低;血胆红素均正常;7例丙氨酸氨基转移酶异常;4例天冬氨酸氨基转移酶异常。患者经精氨酸血红素或高浓度葡萄糖治疗后病情好转。结论腹痛、神经精神症状、尿色加深为AIP主要临床表现,精氨酸血红素及高浓度葡萄糖是治疗AIP患者的有效手段。

Objective To investigate the clinical features,diagnosis methods,and current treatment of acute intermittent porphyria（AIP） in order to facilitate early detection and treatment.Methods A retrospective analysis of 13 AIP patients,who were hospitalized in the Hebei General Hospital from March 2010 to June 2017,was performed to collect the data pertaining to AIP clinical data,laboratory tests,treatment methods and their therapeutic efficacy.Results Among the 13 AIP patients,3 presented with a fever,7 with nausea and vomiting of stomach contents without hematemesis,8 with abdominal tenderness,and 10 with abdominal pain,reduced exhaust and defecation,general malaise and tachycardia,as well as orange urine,which turned kermesinus/wine red after a 2 h sun exposure.There were 12 patients with increased intracellular zinc porphyrin and 13 patients with positive urinary porphobilinogen.In addition,8 patients had positive uroporphyrin,10 patients suffered from anemia,and 6 patients had decreased serum sodium.Hemobilirubin was normal for all patients.Finally,7 patients had abnormal alanine aminotransferase and 4 patients exhibited abnormal aspartate aminotransferase.The AIP patients improved soon after treatment with arginine hemoglobin or high concentration of glucose.Conclusion Abdominal pain,neuropsychiatric symptoms,and darkening of urine color are the main clinical manifestations of AIP.Arginine hemoglobin and high concentrations of glucose are effective treatments for patients with AIP.