协和医学杂志Issue(2)：110-114,5.DOI:10.3969/j.issn.1674-9081.2015.02.007
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
李晓青 1刘罡 2舒慧君 1吴东 1聂广军 2钱家鸣1
作者信息
- 1. 中国医学科学院 北京协和医学院 北京协和医院消化内科，北京100730
- 2. 纳米材料和纳米生物效应重点实验室 国家纳米科学和技术中心，北京100190
- 折叠
摘要
Abstract
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.关键词
急性间歇性卟啉病/临床/遗传/早识别Key words
acute intermittent porphyria/clinical/genetic/early recognition分类
医药卫生引用本文复制引用
李晓青,刘罡,舒慧君,吴东,聂广军,钱家鸣..36例急性间歇性卟啉病患者临床及遗传特点[J].协和医学杂志,2015,(2):110-114,5.
