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时间至关重要:对一例严重急性间歇性卟啉病患者采用延长氯高铁血红素治疗

Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria.

作者信息

Kumar Smriti Rajita, Byrnes Diana, Mahfouz Mahmoud, Rosenblatt Joseph, Levy Cynthia

机构信息

Department of Medicine, University of Miami Miller School of Medicine, Miami, FL.

Department of Hematology and Oncology, University of Miami Miller School of Medicine, Miami, FL.

出版信息

ACG Case Rep J. 2022 Jul 11;9(7):e00827. doi: 10.14309/crj.0000000000000827. eCollection 2022 Jul.

Abstract

Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a rare case of severe AIP masquerading as ascending polyneuropathy and how it was correctly diagnosed and treated with an extended course of hemin despite initial barriers to biochemical testing for AIP.

摘要

急性间歇性卟啉病(AIP)是一种影响血红素合成的疾病,导致上游前体物质积累,并可引起一系列内脏和神经症状。如果不及时诊断和治疗,这些症状可能会严重致残甚至致命。我们概述了一例罕见的严重AIP伪装成上行性多发性神经病的病例,以及尽管在进行AIP生化检测时最初遇到障碍,但如何通过延长疗程的氯高铁血红素对其进行正确诊断和治疗。

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本文引用的文献

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The acute hepatic porphyrias.急性肝卟啉病
Transl Gastroenterol Hepatol. 2021 Apr 5;6:24. doi: 10.21037/tgh-2020-01. eCollection 2021.
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A Case of Acute Intermittent Porphyria Mimicking Guillain-Barré Syndrome.一例酷似吉兰-巴雷综合征的急性间歇性卟啉病病例。
Noro Psikiyatr Ars. 2019 Oct 15;56(4):311-312. doi: 10.5152/npa.2017.19474. eCollection 2019 Dec.
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Clinical Guide and Update on Porphyrias.临床指南和卟啉病更新。
Gastroenterology. 2019 Aug;157(2):365-381.e4. doi: 10.1053/j.gastro.2019.04.050. Epub 2019 May 11.
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An update of clinical management of acute intermittent porphyria.急性间歇性卟啉症临床管理的最新进展。
Appl Clin Genet. 2015 Sep 1;8:201-14. doi: 10.2147/TACG.S48605. eCollection 2015.
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Acute Hepatic Porphyria.急性肝性卟啉症。
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