Dong Wentao, Zeng Bingliang, Wang Xiaolian, Zhang Rui, Huang Pei, Fan Bing, Yuan Min, Li Zicong
Department of Radiology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang, China.
Medical College of Nanchang University, Nanchang University, Nanchang, China.
Front Genet. 2025 Mar 5;16:1551832. doi: 10.3389/fgene.2025.1551832. eCollection 2025.
Acute intermittent porphyria (AIP) is a rare metabolic disorder resulting from defects in the heme biosynthesis pathway, often presenting with non-specific symptoms such as abdominal pain, seizures, and neuropsychiatric disturbances. Diagnosis is challenging due to the overlap of symptoms with other conditions, and early recognition is critical for effective treatment.
A 24-year-old female presented with a 6-day history of persistent lower abdominal pain and generalized tonic-clonic seizures, following the consumption of seafood. Neuroimaging revealed white matter hyperintensities, and urine analysis showed dark red discoloration, suggestive of porphyria. Genetic testing confirmed a novel c.499-1_514del mutation in the gene, diagnosing AIP. The patient was treated with intravenous glucose, heme arginate, and anticonvulsants. Symptom resolution was noted within days, and follow-up MRI showed significant improvement.
This case underscores the importance of early diagnosis and management in AIP. Genetic testing plays a crucial role in confirming the diagnosis, especially in atypical cases. Timely intervention with glucose and heme arginate, combined with supportive care, led to rapid symptom resolution, reinforcing the reversibility of AIP-associated neuroimaging changes. Clinicians should maintain a high index of suspicion for AIP in patients with unexplained abdominal and neurological symptoms to prevent long-term complications.
急性间歇性卟啉病（AIP）是一种罕见的代谢紊乱疾病，由血红素生物合成途径缺陷引起，常表现为腹痛、癫痫发作和神经精神障碍等非特异性症状。由于症状与其他疾病重叠，诊断具有挑战性，早期识别对有效治疗至关重要。
一名24岁女性在食用海鲜后出现持续6天的下腹部疼痛和全身性强直阵挛性癫痫发作。神经影像学检查显示白质高信号，尿液分析显示暗红色变色，提示卟啉病。基因检测证实该基因存在一种新的c.499-1_514del突变，诊断为AIP。患者接受了静脉注射葡萄糖、精氨酸血红素和抗惊厥药物治疗。数天内症状缓解，随访MRI显示明显改善。
本病例强调了AIP早期诊断和管理的重要性。基因检测在确诊中起着关键作用，尤其是在非典型病例中。及时使用葡萄糖和精氨酸血红素进行干预，结合支持性护理，可使症状迅速缓解，强化了AIP相关神经影像学改变的可逆性。临床医生应对有不明原因腹部和神经症状的患者保持高度怀疑，以预防长期并发症。
