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应对（遗传性血管性水肿发作时的）肿胀：一例遗传性血管性水肿病例报告

Navigating the swells: A case report of hereditary angioedema.

作者信息

Taori Kamlesh, Kirnake Vijendra, Junare Parmeshwar, Padwale Vishal

机构信息

Department of Gastroenterology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi Meghe, Wardha, Maharashtra, India.

出版信息

J Family Med Prim Care. 2024 Jul;13(7):2784-2786. doi: 10.4103/jfmpc.jfmpc_1254_23. Epub 2024 Jun 28.

DOI:10.4103/jfmpc.jfmpc_1254_23
PMID:39071003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11272023/
Abstract

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of localized edema caused by a deficiency or dysfunction of C1 inhibitor (C1-INH). This case report presents the clinical features, diagnostic evaluation, and management of a 23-year-old man with HAE. We discuss the challenges of diagnosing and treating this condition, emphasizing the importance of early recognition and appropriate therapeutic interventions.

摘要

遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其特征是由于C1抑制剂（C1-INH）缺乏或功能障碍导致局部水肿反复发作。本病例报告介绍了一名23岁HAE男性患者的临床特征、诊断评估及治疗情况。我们讨论了诊断和治疗该疾病的挑战，强调了早期识别和适当治疗干预的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d3d9/11272023/9ee611337277/JFMPC-13-2784-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d3d9/11272023/9ee611337277/JFMPC-13-2784-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d3d9/11272023/9ee611337277/JFMPC-13-2784-g001.jpg

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Navigating the swells: A case report of hereditary angioedema.应对（遗传性血管性水肿发作时的）肿胀：一例遗传性血管性水肿病例报告
J Family Med Prim Care. 2024 Jul;13(7):2784-2786. doi: 10.4103/jfmpc.jfmpc_1254_23. Epub 2024 Jun 28.
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本文引用的文献

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Hereditary Angioedema.遗传性血管性水肿
Cureus. 2023 Jul 18;15(7):e42088. doi: 10.7759/cureus.42088. eCollection 2023 Jul.
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Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.遗传性血管性水肿伴正常 C1-INH 与有无特定 F12 基因突变。
Allergy. 2015 Aug;70(8):1004-12. doi: 10.1111/all.12648. Epub 2015 May 22.
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The burden of illness in patients with hereditary angioedema.遗传性血管性水肿患者的疾病负担。
Ann Allergy Asthma Immunol. 2013 Nov;111(5):329-36. doi: 10.1016/j.anai.2013.08.019. Epub 2013 Sep 18.
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World Allergy Organ J. 2012 Dec;5(12):182-99. doi: 10.1097/WOX.0b013e318279affa.
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