36例急性间歇性卟啉病患者临床及遗传特点

Clinical and Genetic Characteristics of 36 Patients with Acute Intermittent Porphyria

目的探讨急性间歇性卟啉病(acute intermittent porphyria,AIP)的临床和遗传特点。方法回顾性分析北京协和医院2006年12月至2014年10月诊断为AIP的36例住院患者的临床资料,总结AIP的临床表现、实验室检查、治疗及转归,并分析其基因突变和遗传特点。结果 36例AIP患者中女性32例(88.9%);平均年龄为(27.2±6.3)岁;患者主要就诊于消化内科和急诊科。临床表现方面,35例(97.2%)患者出现不同程度的腹痛,30例(83.3%)患者伴有明显的神经精神症状,13例(36.1%)患者主诉发病时尿色加深。发病时尿卟胆原检测呈阳性。此外,36例AIP患者中出现不同程度的贫血或肝功能异常或低钠血症者各为28例(77.8%)。进行基因检测的8例患者均发现卟胆原脱氨酶(porphobilinogen deaminase,PBGD)不同位点的基因突变。结论本组AIP患者多为育龄期女性,腹痛、神经精神症状、尿色加深为主要临床表现,尿卟胆原检查有助于诊断,患者及家系的基因检测对确诊和家系筛查至关重要。早期识别、早期干预、早期家系筛查可改善AIP患者预后。

Objective To investigate the clinical and genetic characteristics of acute intermittent porphy- ria （AIP）. Methods Thirty-six patients diagnosed with AIP and hospitalized in Peking Union Medical College Hospital from December 2006 to October 2014 were enrolled in our study. We analyzed the clinical data of the 36 patients retrospectively, summarizing the clinical manifestations, laboratory test results, treatments and outcomes. Gene mutations of some patients were analyzed. Results Among the 36 AIP patients, 32 （88.9%） were fe- males. The average age was （27.2 -＋ 6.3 ） years. Most of the patients visited Gastroenterology Department and Emergency Department. At presentation, 35 patients （97.2%） had abdominal pain varying in severity, 30 （83.3%） manifested obvious neuropsychiatric symptoms and 13 （36. 1% ） complained of dark-colored urine. Positive urinary porphobilinogen （PBG） in onset was of diagnostic value. In addition, the number of patients having anemia, abnormal liver function, or hyponatremia was 28 （77.8%） each. Eight patients who received genetic testing were detected with mutation at different sites in the gene coding porphobilinogen deaminase （PBGD）. Conclusions Most of the AIP patients in our study were females of childbearing age. The main mani- festations are abdominal pain, neuropsychiatric symptoms, and dark-colored urine. Urine PBG test is helpful in di- agnosis. Genetic detection of patients and their families is highly important for the diagnosis and family screening of this condition. Early recognition, intervention and family screening may improve the prognosis of AIP patients.