Huang Shiqian, Li Ruiting, Yuan Yin
Department of Critical Care Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
J Int Med Res. 2021 Jan;49(1):300060520983143. doi: 10.1177/0300060520983143.
Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease with a broad spectrum of clinical manifestations, and can be easily confused with other diseases. Many patients with porphyria may have symptoms of peripheral nerve damage during an AIP attack, but most such patients are usually only mildly affected. Herein, we describe the case of an undiagnosed woman who developed overall weakness and respiratory failure within 48 hours, leading to her referral to the intensive care unit. Her neuropathy rapidly deteriorated, leading to quadriplegia and bulbar palsy within 14 days. Finally, the reddish color of her urine and further genetic analysis led to a diagnosis of AIP. The patient was treated with intravenous glucose infusion and her condition gradually improved; however, severe neurological sequelae remained. To the best of our knowledge, the AIP reported in this case, involving rapid and severe neuropathy, is extremely rare worldwide. A diagnosis of AIP should therefore be considered when patients present with severe progressive neuropathy. Moreover, early diagnosis may considerably improve patient prognosis.
急性间歇性卟啉病（AIP）是一种罕见的常染色体显性代谢疾病，临床表现多样，易与其他疾病混淆。许多卟啉病患者在AIP发作期间可能出现周围神经损伤症状，但大多数此类患者通常仅受到轻度影响。在此，我们描述了一名未被诊断出的女性病例，她在48小时内出现全身无力和呼吸衰竭，随后被转诊至重症监护病房。她的神经病变迅速恶化，在14天内导致四肢瘫痪和延髓麻痹。最终，她尿液的红色以及进一步的基因分析导致了AIP的诊断。患者接受了静脉输注葡萄糖治疗，病情逐渐好转；然而，严重的神经后遗症仍然存在。据我们所知，本病例报告的涉及快速和严重神经病变的AIP在全球极为罕见。因此，当患者出现严重的进行性神经病变时，应考虑AIP的诊断。此外，早期诊断可能会显著改善患者的预后。
