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间质性肺疾病诊断工具的更新

Updates in Diagnostic Tools for ILD.

作者信息

Tharwani Arsal, Ribeiro Neto Manuel L

机构信息

Department of Pulmonary Medicine, Integrated Hospital Care Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

出版信息

J Clin Med. 2025 Apr 24;14(9):2924. doi: 10.3390/jcm14092924.

Abstract

Interstitial lung disease (ILD) is a group of diffuse parenchymal disorders, which are diagnosed in many cases by multidisciplinary discussion (MDD). In some cases, diagnosis can be challenging, and the addition of histopathology can increase diagnostic confidence. The tools to obtain a histopathological sample to diagnose ILD are expanding. In this review, we will discuss the various modalities, their sensitivities and specificities, and procedural complication rates. In this review, we conducted a comprehensive review of literature focusing on emerging and established diagnostic tools for ILD. A systematic search of peer-reviewed publications was performed using PubMed with a focus on clinical trials, retrospective and prospective cohort studies, and systematic reviews. The key diagnostic modalities in focus were genomic classifier (GC), transbronchial cryobiopsy (TBLC), surgical lung biopsy (SLB), endobronchial ultrasound cryobiopsy (EBUS-C), genetic testing, and speckled transthoracic echocardiography (STE). Data extracted from these studies focused on diagnostic yield, specificity, sensitivity, and procedural complication rate. Genomic classifier, a gene-based molecular diagnostic tool, has a high specificity for histological usual interstitial pneumonia (UIP). However, in cases of a negative result, it often results in a need for further invasive sampling by TBLC or SLB. TBLC results in a larger histological sample, which can increase diagnostic yield and increase diagnostic confidence at MDD. Recent prospective trials have compared this modality with SLB and found 63-77% interobserver agreement between pathologists. SLB remains the gold standard with diagnostic yields reported to be more than 90%. EBUS-C has shown promising results increasing diagnostic yield in patients with suspected sarcoidosis or lymphoma. All diagnostic modalities have procedural complications with most common being pneumothorax, bleeding and, rarely, death. Advancements in diagnostic tools for interstitial lung disease (ILD) have significantly improved accuracy. Even though surgical lung biopsy remains the gold standard, the alternative modalities are promising and provide a promising yield with a lower procedural risk.

摘要

间质性肺疾病(ILD)是一组弥漫性实质性疾病,许多病例通过多学科讨论(MDD)进行诊断。在某些情况下,诊断可能具有挑战性,而增加组织病理学检查可提高诊断的可信度。用于获取组织病理学样本以诊断ILD的工具正在不断扩展。在本综述中,我们将讨论各种方法、它们的敏感性和特异性以及操作并发症发生率。在本综述中,我们对文献进行了全面回顾,重点关注ILD的新兴和既定诊断工具。使用PubMed对同行评审的出版物进行了系统检索,重点是临床试验、回顾性和前瞻性队列研究以及系统评价。重点关注的关键诊断方法包括基因组分类器(GC)、经支气管冷冻活检(TBLC)、外科肺活检(SLB)、支气管内超声冷冻活检(EBUS-C)、基因检测和斑点状经胸超声心动图(STE)。从这些研究中提取的数据集中在诊断率、特异性、敏感性和操作并发症发生率上。基因组分类器是一种基于基因的分子诊断工具,对组织学上的普通间质性肺炎(UIP)具有高特异性。然而,在结果为阴性的情况下,通常需要通过TBLC或SLB进行进一步的侵入性采样。TBLC可获得更大的组织学样本,这可以提高诊断率并增加MDD时的诊断可信度。最近的前瞻性试验将这种方法与SLB进行了比较,发现病理学家之间的观察者间一致性为63-77%。SLB仍然是金标准,报告的诊断率超过90%。EBUS-C在疑似结节病或淋巴瘤患者中显示出提高诊断率的有前景的结果。所有诊断方法都有操作并发症,最常见的是气胸、出血,很少有死亡。间质性肺疾病(ILD)诊断工具的进步显著提高了准确性。尽管外科肺活检仍然是金标准,但替代方法很有前景,并且在操作风险较低的情况下提供了有前景的诊断率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0968/12072319/bd97f2daeee4/jcm-14-02924-g001.jpg

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本文引用的文献

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Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.
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Eur Respir J. 2023 Apr 1;61(4). doi: 10.1183/13993003.00033-2023. Print 2023 Apr.
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