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一名患有抗肾小球基底膜疾病的老年女性因不明原因咯血导致诊断延迟

Hemoptysis of Uncertain Cause Leading to Delayed Diagnosis in an Elderly Lady With Anti-glomerular Basement Membrane Disease.

作者信息

Razik Anjana, Aslam Zaheer

机构信息

General Internal Medicine, Bedford Hospital NHS Trust, Bedford, GBR.

Respiratory Medicine, Bedford Hospital NHS Trust, Bedford, GBR.

出版信息

Cureus. 2023 Oct 29;15(10):e47917. doi: 10.7759/cureus.47917. eCollection 2023 Oct.

DOI:10.7759/cureus.47917
PMID:37937005
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10626246/
Abstract

Anti-glomerular basement membrane (GBM) disease or Goodpasture syndrome is a rare disorder characterized by anti-GBM autoantibodies targeting the type 4 collagen of the basement membrane, resulting in rapidly progressive glomerulonephritis with or without alveolar hemorrhage. Pulmonary manifestations are less common in the elderly. Isolated pulmonary manifestations are rare in all age groups, and even more so in the elderly. We present the case of a lady in her late 70s, who presented initially with massive hemoptysis in the absence of renal dysfunction, which was presumed to be secondary to underlying bronchiectasis and infection. However, she later developed rapidly progressive acute kidney injury despite improvement in pulmonary symptoms and was diagnosed with anti-GBM disease. The delay in diagnosis and subsequent treatment due to the atypical presentation resulted in irreversible renal injury and the need for lifelong dialysis. This case demonstrates the need to consider atypical presentations of rare disorders, to ensure early diagnosis and optimal prognosis, especially when the clinical history cannot be explained by findings on examination and investigation.

摘要

抗肾小球基底膜(GBM)病或古德帕斯彻综合征是一种罕见疾病,其特征是抗GBM自身抗体靶向基底膜的IV型胶原,导致伴有或不伴有肺泡出血的快速进行性肾小球肾炎。肺部表现在老年人中较少见。孤立性肺部表现在所有年龄组中都很罕见,在老年人中更是如此。我们报告了一例70多岁晚期的女性病例,她最初表现为大量咯血,无肾功能不全,推测继发于潜在的支气管扩张和感染。然而,尽管肺部症状有所改善,但她后来仍发展为快速进行性急性肾损伤,并被诊断为抗GBM病。由于非典型表现导致的诊断和后续治疗延迟导致了不可逆的肾损伤以及终身透析的需要。该病例表明,需要考虑罕见疾病的非典型表现,以确保早期诊断和最佳预后,尤其是当临床病史无法用检查和调查结果解释时。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/76ade61f8799/cureus-0015-00000047917-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/b3e420c68d45/cureus-0015-00000047917-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/8de20d91fe49/cureus-0015-00000047917-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/76ade61f8799/cureus-0015-00000047917-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/b3e420c68d45/cureus-0015-00000047917-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/8de20d91fe49/cureus-0015-00000047917-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dff1/10626246/76ade61f8799/cureus-0015-00000047917-i03.jpg

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本文引用的文献

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An uncommon presentation of a rare disease: A case of anti-glomerular basement membrane disease without renal involvement.一种罕见疾病的不常见表现:一例无肾脏受累的抗肾小球基底膜病。
Respir Med Case Rep. 2020 Nov 7;31:101282. doi: 10.1016/j.rmcr.2020.101282. eCollection 2020.
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What triggered massive hemoptysis in Goodpasture syndrome with isolated pulmonary involvement in a 14-year-old boy?一名14岁男孩,患有仅累及肺部的Goodpasture综合征,是什么引发了大量咯血?
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Anti-Glomerular Basement Membrane Disease.
抗肾小球基底膜病
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Anti-Glomerular Basement Membrane Disease.抗肾小球基底膜病
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Goodpasture's Disease: An Uncommon Disease With an Atypical Clinical Course.肺出血肾炎综合征:一种具有非典型临床病程的罕见疾病。
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Diagnosis and classification of Goodpasture's disease (anti-GBM).Goodpasture 病(抗肾小球基底膜病)的诊断和分类。
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Clinical features and outcomes of anti-glomerular basement membrane disease in older patients.老年抗肾小球基底膜病患者的临床特征和转归。
Am J Kidney Dis. 2011 Apr;57(4):575-82. doi: 10.1053/j.ajkd.2010.09.022. Epub 2010 Dec 18.
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Diffuse alveolar hemorrhage: diagnosing it and finding the cause.弥漫性肺泡出血:诊断及病因查找
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Alveolar hemorrhage in anti-basement membrane antibody disease: a series of 28 cases.抗基底膜抗体病中的肺泡出血:28例病例系列
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