家族性地中海热中的骶髂关节炎:一种罕见的关节受累病。

IF 1.6 4区 医学 Q2 PEDIATRICS Journal of paediatrics and child health Pub Date : 2024-07-25 DOI:10.1111/jpc.16623
Emine Özçelik, Elif Çelikel, Zahide Ekici Tekin, Vildan Güngörer, Cüneyt Karagöl, Melike Mehveş Kaplan, Nimet Öner, Merve Cansu Polat, Didem Öztürk, Mehveş Işıklar Ekici, Yasemin Uğur Es, Banu Çelikel Acar
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引用次数: 0

摘要

目的:家族性地中海热(FMF)是一种单基因自身炎症性疾病,其特点是反复发热和多发性肌炎。骶髂关节受累在 FMF 患者中较为罕见。本研究旨在评估罹患骶髂关节炎的 FMF 患者的人口统计学、临床、实验室和影像学检查结果:方法:对随访的 0-18 岁诊断为 FMF 的儿科患者的档案进行回顾性审查。研究纳入了磁共振成像(MRI)显示骶髂关节炎的 FMF 患者:在 1062 名 FMF 患者中,有 22 人(12 名男性;中位年龄为 8.5 岁)(2.1%)被发现患有骶髂关节炎。9名患者(40.9%)在骶髂关节炎之前诊断出 FMF,13 名患者(59.1%)在骶髂关节炎之后诊断出 FMF。骶髂关节炎患者最常见的症状是腰痛(21 人,95.5%)。在MEFV基因分析中,16名(72.7%)患者发现了M694V,这是最常见的基因突变。磁共振成像显示,所有患者都有骶髂关节炎的证据。所有患者均使用秋水仙碱。FMF相关性骶髂关节炎患者中,12人(54.5%)使用非甾体类抗炎药,6人(27.3%)使用传统的改变病情抗风湿药,4人(31.8%)使用肿瘤坏死因子抑制剂治疗,病情得到缓解。4名(31.8%)患者在与秋水仙碱不兼容时出现骶髂关节炎,4名(31.8%)患者在使用生物制剂治疗耐秋水仙碱的FMF时出现骶髂关节炎:结论:FMF相关性骶髂关节炎应特别考虑M694V突变患者,如果他们有腰痛等症状。对秋水仙碱耐药的 FMF 患者每次就诊时都应评估其骶髂关节炎症状。
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Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease

Aim

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterised by recurrent episodes of fever and polyserositis. Sacroiliac joint involvement is rare in FMF patients. The purpose of this study was to evaluate the demographic, clinical, laboratory and imaging findings of patients with FMF who developed sacroiliitis.

Methods

The files of paediatric patients aged 0–18 years who were followed up with a diagnosis of FMF were retrospectively reviewed. FMF patients with evidence of sacroiliitis on magnetic resonance imaging (MRI) were included in the study.

Results

Among 1062 FMF patients, 22 (12 males; median age 8.5) (2.1%) of them were found to have sacroiliitis. FMF was diagnosed before sacroiliitis in nine (40.9%) patients and after in 13 (59.1%) patients. The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation. MRI showed evidence of sacroiliitis in all patients. All patients were using colchicine. Patients with FMF-associated sacroiliitis, remission was achieved with non-steroidal anti-inflammatory drugs in 12 (54.5%), conventional disease-modifying antirheumatic drugs in six (27.3%) and tumour necrosis factor inhibitor treatment in four (31.8%). Four (31.8%) patients experienced sacroiliitis when colchicine incompatible and four (31.8%) patients experienced sacroiliitis while using biologic agents for colchicine-resistant FMF.

Conclusions

FMF-associated sacroiliitis should be considered especially in patients with M694V mutation if they have symptoms such as low back pain. Colchicine-resistant FMF patients should be evaluated for sacroiliitis symptoms at each visit.

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来源期刊
CiteScore
2.90
自引率
5.90%
发文量
487
审稿时长
3-6 weeks
期刊介绍: The Journal of Paediatrics and Child Health publishes original research articles of scientific excellence in paediatrics and child health. Research Articles, Case Reports and Letters to the Editor are published, together with invited Reviews, Annotations, Editorial Comments and manuscripts of educational interest.
期刊最新文献
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