神经病学与神经康复学杂志2025，Vol.21Issue(6)：483-491,9.DOI:10.12022/jnnr.2025-0266
急性间歇性卟啉病神经系统症状的典型演变:1例报告及文献复习
Typical neurological progression of acute intermittent porphyria:A case report and literature review
徐时敏 1夏忆玮 1吴冬燕 1周磊 1吴洵昳1
作者信息
- 1. 复旦大学附属华山医院神经内科,上海 200040
- 折叠
摘要
Abstract
Objective:To investigate the neurological clinical manifestations,diagnosis,and key treatment strategies of acute intermittent porphyria(AIP),with the aim of improving early recognition and standardized management of the disease.
Methods:The clinical data of a patient who presented with abdominal pain and seizures at disease onset was reported,and a literature review regarding the clinical features,pathogenesis,diagnosis,differential diagnosis,and treatment of AIP was conducted.
Results:The patient successively developed acute abdominal pain,epileptic seizures,and predominantly proximal motor axonal neuropathy.Urinary porphobilinogen(PBG)levels were significantly elevated,and genetic testing revealed a heterozygous mutation in the hydroxymethylbilane synthase(HMBS)gene.
Conclusion:The neurological manifestations of AIP exhibited a characteristic temporal pattern of evolution,and urinary PBG screening is crucial for early diagnosis.Early initiation of hemin therapy is essential to halt disease progression and improve clinical outcomes.关键词
急性间歇性卟啉病/腹痛/癫痫/运动轴索损伤Key words
Acute intermittent porphyria/Abdominal pain/Epileptic seizures/Motor axonal neuropathy引用本文复制引用
徐时敏,夏忆玮,吴冬燕,周磊,吴洵昳..急性间歇性卟啉病神经系统症状的典型演变:1例报告及文献复习[J].神经病学与神经康复学杂志,2025,21(6):483-491,9.
