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类风湿性狼疮综合征:9例病例描述,特别关注HLA-DR基因型。

Rhupus syndrome: Description of 9 cases with special attention to the HLA-DR genotype.

作者信息

Pérez Hurtado Andrés, Martínez Cordellat Isabel, González Mazario Roxana, Grau García Elena, Román Ivorra José Andrés

机构信息

Servicio de Reumatología, Hospital Universitario y Politécnico La Fe, Valencia, España.

Servicio de Reumatología, Hospital Universitario y Politécnico La Fe, Valencia, España.

出版信息

Med Clin (Barc). 2025 Jan 10;164(1):16-19. doi: 10.1016/j.medcli.2024.09.006. Epub 2024 Nov 7.

Abstract

BACKGROUND AND OBJECTIVES

Rhupus is a very rare syndrome of overlapping rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), characterized by the presence of erosive polyarthritis associated with symptoms and signs of SLE and the presence of high specificity autoantibodies. The analysis of HLA-DR molecules would allow us to genetically characterize patients diagnosed with rhupus, being able to differentiate them from the HLA-DR profile of patients with RA and SLE.

MATERIALS AND METHODS

Cross-sectional observational study of 9 patients diagnosed with rhupus in whom the HLA-DR genotype was genetically characterized.

RESULTS

Rhupus is usually more frequent in women with initial diagnosis of RA. The most frequent clinical manifestations are articular and, serologically, ANA, RF and anti-CCP positivity stand out. The most frequent HLA-DR were HLA-DR1, HLA-DR3, HLA-DR4, HLA-DR7 and HLA-DR13.

CONCLUSIONS

A higher proportion of HLA-DR1 and DR9 was observed in patients with rhupus compared to RA and SLE, as well as a lower proportion of HLA-DR2, DR6 and DR8, which would help the early characterization of these patients prior to the overlap diagnosis.

摘要

背景与目的

Rhupus是一种非常罕见的类风湿关节炎(RA)和系统性红斑狼疮(SLE)重叠综合征,其特征为存在与SLE症状和体征相关的侵蚀性多关节炎以及高特异性自身抗体。对HLA-DR分子的分析将使我们能够对诊断为Rhupus的患者进行基因特征分析,从而能够将他们与RA和SLE患者的HLA-DR谱区分开来。

材料与方法

对9例诊断为Rhupus的患者进行横断面观察研究,对其HLA-DR基因型进行基因特征分析。

结果

Rhupus通常在初诊为RA的女性中更为常见。最常见的临床表现为关节症状,在血清学方面,ANA、RF和抗CCP阳性较为突出。最常见的HLA-DR为HLA-DR1、HLA-DR3、HLA-DR4、HLA-DR7和HLA-DR13。

结论

与RA和SLE患者相比,Rhupus患者中HLA-DR1和DR9的比例更高,而HLA-DR2、DR6和DR8的比例更低,这将有助于在重叠诊断之前对这些患者进行早期特征分析。

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