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急性卟啉病的意外表现。

Unexpected presentation of acute porphyria.

作者信息

Kiew Chiun Khang, Lam Adeline Serena Ee Ling

机构信息

General Medicine Department, Tan Tock Seng Hospital, Singapore.

General Medicine Department, Tan Tock Seng Hospital, Singapore

出版信息

BMJ Case Rep. 2021 Jun 29;14(6):e241580. doi: 10.1136/bcr-2021-241580.

Abstract

Acute porphyrias are rarely reported in Southeast Asia. They may be underdiagnosed due to their clinical mimicry and lack of awareness among physicians. There is a common cognitive bias to gravitate towards common conditions. In this case report, a 28-year-old woman, who presented with seizures, rhabdomyolysis hyponatraemia and altered mental state, was initially diagnosed as amphetamine overdose. She had presented 3 days prior with abdominal pain, treated for acute cystitis and discharged. On readmission for seizures a day later, she was extensively worked up for altered mental state. Despite normalisation of serum sodium concentration and control of her seizures, she remained unwell. Further investigations later confirmed a diagnosis of acute porphyria. The aim of this case report is to highlight the non-specific nature of presentation of acute porphyria and the importance of considering it as a differential diagnosis in cases of abdominal pain with neuropsychiatric features.

摘要

急性卟啉病在东南亚地区鲜有报道。由于其临床表现具有迷惑性且医生对此缺乏认识,这些病例可能未得到充分诊断。人们普遍存在倾向于常见病症的认知偏差。在本病例报告中,一名28岁女性出现癫痫发作、横纹肌溶解、低钠血症及精神状态改变,最初被诊断为苯丙胺过量。她3天前因腹痛就诊,接受了急性膀胱炎治疗后出院。一天后因癫痫再次入院时,对其精神状态改变进行了全面检查。尽管血清钠浓度恢复正常且癫痫得到控制,但她仍感觉不适。进一步检查后来确诊为急性卟啉病。本病例报告的目的是强调急性卟啉病临床表现的非特异性,以及在伴有神经精神症状的腹痛病例中将其作为鉴别诊断的重要性。

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本文引用的文献

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Acute hepatic porphyrias: Current diagnosis & management.急性肝卟啉症:当前的诊断与管理。
Mol Genet Metab. 2019 Nov;128(3):219-227. doi: 10.1016/j.ymgme.2019.07.002. Epub 2019 Jul 5.
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Cognitive bias in clinical medicine.临床医学中的认知偏差。
J R Coll Physicians Edinb. 2018 Sep;48(3):225-232. doi: 10.4997/JRCPE.2018.306.
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Porphyria.卟啉病
N Engl J Med. 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634.
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Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009. Epub 2015 Jul 2.

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