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急性间歇性卟啉病伴呼吸衰竭:多学科诊疗方法

Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach.

作者信息

Menegueti Mayra Gonçalves, Gil Cezar Alkmim-Teixeira, Casarini Karin Aparecida, Muniz Cordeiro Kátia Simone, Basile-Filho Anibal, Martins-Filho Olindo Assis, Auxiliadora-Martins Maria

机构信息

Divisão de Terapia Intensiva, Departamento de Cirurgia e Anatomia, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto, SP, Brazil.

出版信息

Crit Care Res Pract. 2011;2011:283690. doi: 10.1155/2011/283690. Epub 2011 May 11.

DOI:10.1155/2011/283690
PMID:21687623
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3113262/
Abstract

Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented. We believe that acute intermittent porphyria should be borne in mind during performance of differential diagnosis of neurological, psychiatric, and gastroenterological disorders on patients whose routine investigation tests are normal, especially when precipitating factors exist. Intensive care measures and a multidisciplinary team approach are essential.

摘要

尽管具有挑战性,但为急性间歇性卟啉病患者提供有效的护理至关重要。本文强调了该病症症状的多样性和诊断困难,并介绍了在重症监护病房对该疾病的治疗细节。我们认为,在对常规检查结果正常的神经、精神和胃肠疾病患者进行鉴别诊断时,应考虑到急性间歇性卟啉病,尤其是存在诱发因素时。重症监护措施和多学科团队方法至关重要。

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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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[Acute intermittent porphyria in the puerperium].产褥期急性间歇性卟啉病
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[State of dementia due to intermittent acute porphyria: a case report].[间歇性急性卟啉病所致痴呆状态:一例报告]
Encephale. 2014 Sep;40(4):345-50. doi: 10.1016/j.encep.2012.09.003. Epub 2013 Aug 28.
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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
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Caring for patients with acute intermittent porphyria.照顾急性间歇性卟啉病患者。
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[Acute intermittent porphyria is a difficult diagnosis--especially in children].急性间歇性卟啉症是一种难以诊断的疾病——尤其是在儿童中。
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Acute intermittent porphyria and mental illness--a family study.
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A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female.一例急性间歇性卟啉病导致一名21岁年轻女性严重残疾的病例。
Cureus. 2023 Feb 8;15(2):e34757. doi: 10.7759/cureus.34757. eCollection 2023 Feb.
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Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria.抗结核治疗引发的纯运动性轴索性神经病,发生在一例未确诊的急性间歇性卟啉病患者中。
BMJ Case Rep. 2017 Mar 27;2017:bcr2016219105. doi: 10.1136/bcr-2016-219105.
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Acute intermittent porphyria: Diagnostic dilemma and treatment options.急性间歇性卟啉症:诊断困境与治疗选择
J Anaesthesiol Clin Pharmacol. 2015 Jul-Sep;31(3):407-8. doi: 10.4103/0970-9185.161683.

本文引用的文献

1
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.委内瑞拉人群中携带突变 Q180X 的急性间歇性卟啉症家系存在明显的地域聚集性,并描述了其他突变。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S455-63. doi: 10.1007/s10545-010-9228-x. Epub 2010 Oct 27.
2
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.
3
Spectrum of emergency department presentation in patients of acute intermittent porphyria: experience from a North Indian tertiary care center.急性间歇性血卟啉症患者在急诊科的表现谱:来自印度北部一家三级护理中心的经验。
Neurol India. 2010 Jan-Feb;58(1):95-8. doi: 10.4103/0028-3886.60410.
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Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients.两种营养性肝脏标志物(胰岛素样生长因子1和转甲状腺素蛋白)在急性间歇性卟啉症患者临床评估及随访中的作用
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Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.常染色体显性急性卟啉病的诊断策略:对467例因HMBS、CPOX或PPOX基因突变分析而转诊的非亲缘患者的回顾性分析。
Clin Chem. 2009 Jul;55(7):1406-14. doi: 10.1373/clinchem.2008.122564. Epub 2009 May 21.
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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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Recommendations for the diagnosis and treatment of the acute porphyrias.急性卟啉病的诊断与治疗建议。
Ann Intern Med. 2005 Mar 15;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010.
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Porphyrias.卟啉病
Lancet. 2005;365(9455):241-52. doi: 10.1016/S0140-6736(05)17744-7.
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APACHE II: a severity of disease classification system.急性生理与慢性健康状况评分系统II:一种疾病严重程度分类系统。
Crit Care Med. 1985 Oct;13(10):818-29.