摘要目的 分析急性间歇性卟啉病的临床特点,以提高临床医生对本病的诊断和治疗水平.方法 回顾性分析2008年1月至2018年7月郑州大学第一附属医院收治的50例急性间歇性卟啉病患者的临床资料,包括临床表现、诱因、实验室检查结果、治疗方法及预后等信息.结果 50例患者中,发病年龄20～40岁41例(82.0%),男︰女为1∶1.8.最常见的症状为腹痛[47例(94.0%)],伴恶心、呕吐[36例(72.0%)]、便秘[21例(42.0%)],36例(72.0%)患者有神经精神异常,15例(30.0%)患者急性发作期尿色加深.诱因包括感染、月经、饥饿、药物、饮酒、精神刺激等.实验室检查主要为尿卟胆原检测阳性、肝功能异常、低钠血症、贫血等.进行基因检测的16例患者均检测到羟甲基胆素合成酶(HMBS)不同位点的基因突变.治疗方法包括去除诱因,急性发作期给予糖原负荷及对症治疗,大多数患者症状好转出院.结论 急性间歇性卟啉病临床表现复杂多样,不能及时诊断和治疗可能致命.提高认识、早期识别、早期治疗至关重要.

abstractsObjective To analyse the clinical characteristics of patients with acute intermittent porphyria (AIP) in order to improve the understanding and treatment. Methods Patients diagnosed as AIP and admitted to the First Affiliated Hospital of Zhengzhou University were retrospectively enrolled from January 2008 to July 2018. Data of clinical manifestations, causes, laboratory data, treatment and clinical outcome were recorded. Results Among the 50 patients, 41 patients (82%) were aged 20 to 40. The ratio of male and female was 1∶1.8. The most common symptoms were abdominal pain (94.0%), nausea, vomiting (72.0%) and constipation (42.0%). Neuropsychiatric disorders were seen in 72.0% patients, and 30.0% of the patients had dark?coloured urine. Precipitating factors included infections, menstruation, starvation, drugs, alcohol consumption, mental stimulation and so on. Laboratory tests were abnormal for urinary porphobilinogen, liver function, hyponatremia, anaemia and so on. Various mutations of hydroxymethylbilane synthase (HMBS) genes were detected in 16 patients. Management strategies included removal of risk factors, administration of glycogen and symptomatic treatment during acute episode. Most patients were discharged with improved conditions. Conclusions The clinical manifestations of acute intermittent porphyria are complex and diverse. Misdiagnoses or malpractice may be fatal. It is critical to emphasize on its early diagnosis and treatment.