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急性间歇性卟啉症:诊断困境与治疗选择

Acute intermittent porphyria: Diagnostic dilemma and treatment options.

作者信息

Kaur Mohan Deep, Hazarika Nita, Saraswat Namita, Sood Rajesh

机构信息

Department of Anaesthesia and Critical Care, PGIMER and Dr. RML Hospital, New Delhi, India.

出版信息

J Anaesthesiol Clin Pharmacol. 2015 Jul-Sep;31(3):407-8. doi: 10.4103/0970-9185.161683.

DOI:10.4103/0970-9185.161683
PMID:26330726
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4541194/
Abstract

Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage. We present here a case report of AIP where the diagnosis was missed. The diversity of symptoms and details concerning the treatment options for AIP are discussed.

摘要

急性间歇性卟啉病(AIP)表现出多种症状,这使得其早期诊断困难。延迟AIP的诊断和治疗可能是致命的,或者会导致长期或永久性神经损伤。我们在此呈现一例AIP的病例报告,该病例的诊断被漏诊。文中讨论了AIP症状的多样性以及关于其治疗选择的细节。

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本文引用的文献

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Acute intermittent porphyria with SIADH and fluctuating dysautonomia.伴有抗利尿激素分泌异常综合征和波动性自主神经功能障碍的急性间歇性卟啉病
Kathmandu Univ Med J (KUMJ). 2012 Apr-Jun;10(38):96-9. doi: 10.3126/kumj.v10i2.7354.
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Acute intermittent porphyria--diagnostic and treatment traps.
Rom J Intern Med. 2012 Jan-Mar;50(1):33-41.
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Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach.急性间歇性卟啉病伴呼吸衰竭:多学科诊疗方法
Crit Care Res Pract. 2011;2011:283690. doi: 10.1155/2011/283690. Epub 2011 May 11.
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Intensive care management of patients with acute intermittent porphyria: Clinical report of four cases and review of literature.急性间歇性卟啉病患者的重症监护管理:4例临床报告及文献复习
Indian J Crit Care Med. 2010 Apr;14(2):88-91. doi: 10.4103/0972-5229.68222.
5
Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries.血液透析:发展中国家急性间歇性卟啉症严重发作的一种治疗选择。
Hemodial Int. 2008 Jan;12(1):34-8. doi: 10.1111/j.1542-4758.2008.00237.x.
6
Acute Intermittent Porphyria in a Kumhar community of Western Rajasthan.西拉贾斯坦邦一个库姆哈社区的急性间歇性卟啉病
J Assoc Physicians India. 2005 Feb;53:101-4.
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Acute intermittent porphyria.急性间歇性卟啉病
Best Pract Res Clin Gastroenterol. 2005 Apr;19(2):235-49. doi: 10.1016/j.bpg.2004.10.006.
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Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism.间歇性急性卟啉病——胆色素原代谢遗传缺陷的证明
N Engl J Med. 1972 Jun 15;286(24):1277-82. doi: 10.1056/NEJM197206152862401.