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)

目的探讨急性间歇性血卟啉病(AIP)的临床特点。方法回顾性分析1例AIP患者的临床资料。结果本例患者为青年女性,以反复腹痛、四肢无力起病,被多次误诊为急腹症、抑郁症、Guillain-Barré综合征等。结合尿液特征和基因测序结果被确诊为AIP。复习文献发现AIP的临床症状表现包括胃肠道症状、周围神经损害、精神症状、癫痫等。临床表现多样而无特异性。结论反复发作不明原因腹痛并伴有神经系统症状的病例,应考虑到AIP的可能。

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.