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白塞病及时诊断面临的挑战

Challenges in the Timely Diagnosis of Behcet's Disease.

作者信息

Hassan Fadi, Jeries Helana, Naffaa Mohammad E

机构信息

Rheumatology Unit, Galilee Medical Center, Naharyia 2210001, Israel.

Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.

出版信息

Life (Basel). 2023 May 11;13(5):1157. doi: 10.3390/life13051157.

DOI:10.3390/life13051157
PMID:37240802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10222346/
Abstract

Behcet's disease (BD) is a chronic, multi-systemic inflammatory disorder mainly characterized by recurrent oral and genital ulcers, skin lesions, and uveitis. As no pathognomonic laboratory test exists for BD, the diagnosis relies solely on clinical features. Over the years, great efforts have been invested in creating clinical diagnostic and classification criteria. The international study group criteria introduced in 1990 were the first true multinational set of criteria. Despite improving the ability to diagnose BD, these criteria still have limitations, including the inability to diagnose patients presenting without oral ulcers or presenting with rare manifestations of the disease. This led to the introduction of the international criteria for BD in 2013, which improved the sensitivity with minimal compromise on specificity. Despite the efforts made and as our understanding of the clinical manifestations of BD and genetic pathogenesis continue to evolve, efforts should be made to further enhance the currently accepted international classification criteria, perhaps by incorporating genetic testing (e.g., family history or HLA typing) as well as ethnic group-specific features.

摘要

白塞病(BD)是一种慢性、多系统炎症性疾病,主要特征为复发性口腔和生殖器溃疡、皮肤病变以及葡萄膜炎。由于尚无针对BD的特异性实验室检查,诊断完全依赖临床特征。多年来,人们在制定临床诊断和分类标准方面投入了巨大努力。1990年引入的国际研究组标准是第一套真正的跨国标准。尽管这些标准提高了BD的诊断能力,但仍有局限性,包括无法诊断无口腔溃疡或有罕见疾病表现的患者。这促使2013年推出了BD国际标准,该标准在特异性影响最小的情况下提高了敏感性。尽管已做出努力,且随着我们对白塞病临床表现和遗传发病机制的理解不断发展,但仍应努力进一步完善目前被认可的国际分类标准,或许可以通过纳入基因检测(如家族史或人类白细胞抗原分型)以及特定种族群体特征来实现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4525/10222346/e4cda27d0949/life-13-01157-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4525/10222346/e4cda27d0949/life-13-01157-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4525/10222346/e4cda27d0949/life-13-01157-g001.jpg

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本文引用的文献

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The association of Behçet's syndrome with HLA-B51 as understood in 2021.2021 年对 Behçet 综合征与 HLA-B51 关联性的认识。
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HLA-A26 is a risk factor for Behçet's disease ocular lesions.HLA-A26 是贝赫切特病眼部病变的一个危险因素。
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A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.单一内质网氨肽酶-1蛋白同种异型是HLA-B*51携带者患白塞病的一个强风险因素。
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