临床神经病学杂志2017，Vol.30Issue(6)：468-470,3.
急性间歇性血卟啉病的临床特点(附1例报告)
Clinical features of acute intermittent porphyria ( report of 1 case)
李峰 1祝东林 1陈道文 1林兴建1
作者信息
- 1. 210029 南京医科大学附属脑科医院神经内科
- 折叠
摘要
Abstract
Objective To investigate the clinical features of acute intermittent porphyria (AIP).Methods The clinical data of a case of AIP patient were reported .Results This patient was a young female , onset of recurring abdominal pain and limbs weakness , have been misdiagnosed as acute abdomen , depression, Guillain-Barre syndrome etc.Combined with characteristic urine and genetic diagnosis was diagnosed with AIP .Literature review found that the clinical features of AIP including gastrointestinal symptoms , peripheral nerve damage , mental symptoms, epilepsy etc.Clinical manifestations were various without specificity .Conclusion Cases with recurrent unexplained abdominal pain and neurological symptoms should be considered the possibility of AIP .关键词
急性间歇性血卟啉病/临床特点/基因检测Key words
acute intermittent porphyria/clinical features/genetic testing分类
医药卫生引用本文复制引用
李峰,祝东林,陈道文,林兴建..急性间歇性血卟啉病的临床特点(附1例报告)[J].临床神经病学杂志,2017,30(6):468-470,3.
