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复发性多软骨炎与自身免疫性甲状腺疾病的共患。

Co-occurrence of relapsing polychondritis and autoimmune thyroid diseases.

机构信息

Department of Clinical Immunology and Rheumatology, Tazuke Kofukai Medical Research Institute, Kitano Hospital, Osaka, Japan.

Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

出版信息

Orphanet J Rare Dis. 2022 May 10;17(1):101. doi: 10.1186/s13023-022-02261-5.

Abstract

BACKGROUND

Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation and destruction of cartilaginous tissues. RP has characteristics of autoimmune disease and some reports have noted co-occurrence with autoimmune thyroid disease (AITD), consisting of Graves' disease (GD) and Hashimoto thyroiditis (HT). However, there have been no detailed studies on the co-occurrence of RP and AITD. In this study, we aimed to determine whether patients with RP tend to be complicated with AITD. We also analyzed the clinical and genetic profiles of patients in whom these diseases co-occur.

METHODS

We recruited 117 patients with RP and reviewed their medical records. Furthermore, we genotyped Human Leucocyte Antigen (HLA)-A, B Cw, DRB1, DQB1, and DPB1 alleles for 93 of the 117 patients. The prevalence of AITD among the patients with RP was compared with that among the general Japanese population. We also analyzed the clinical and genetic features of the patients with both RP and AITD.

RESULTS

The prevalence of GD among the patients with RP was 4.3% (5 among 117 patients), significantly higher than that among Japanese (0.11%) (p = 2.44 × 10, binomial test). RP patients with GD tended to have nasal involvement (p = 0.023) (odds ratio (OR) 2.58) and HLA-DPB1*02:02 (p = 0.035, OR 10.41). We did not find significant enrichment of HT in patients with RP.

CONCLUSIONS

Patients with RP appear to be at elevated risk of GD. Nasal involvement and HLA-DPB1*02:02 characterize the subset of RP patients with GD, which may guide attempts to characterize a distinct subtype of RP for precision medicine.

摘要

背景

复发性多软骨炎(RP)是一种罕见的炎症性疾病,其特征为软骨组织反复发生炎症和破坏。RP 具有自身免疫性疾病的特征,一些报道指出其与自身免疫性甲状腺疾病(AITD)同时发生,包括格雷夫斯病(GD)和桥本甲状腺炎(HT)。然而,目前还没有关于 RP 与 AITD 同时发生的详细研究。在本研究中,我们旨在确定 RP 患者是否更容易并发 AITD。我们还分析了这些疾病同时发生的患者的临床和遗传特征。

方法

我们招募了 117 名 RP 患者,并回顾了他们的病历。此外,我们对其中 93 名患者的人类白细胞抗原(HLA)-A、B、Cw、DRB1、DQB1 和 DPB1 等位基因进行了基因分型。将 RP 患者中 AITD 的患病率与日本一般人群进行了比较。我们还分析了同时患有 RP 和 AITD 的患者的临床和遗传特征。

结果

RP 患者中 GD 的患病率为 4.3%(117 例患者中 5 例),明显高于日本人(0.11%)(p=2.44×10,二项式检验)。RP 合并 GD 的患者倾向于有鼻受累(p=0.023)(优势比(OR)2.58)和 HLA-DPB1*02:02(p=0.035,OR 10.41)。我们没有发现 RP 患者中 HT 明显富集。

结论

RP 患者似乎 GD 的风险升高。鼻受累和 HLA-DPB1*02:02 是 RP 合并 GD 患者的特征,这可能有助于为精准医学确定 RP 的一个特定亚型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91bc/9087919/8e071f2e2c2f/13023_2022_2261_Fig1_HTML.jpg

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