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儿童家族性地中海热相关的慢性非细菌性骨髓炎

Chronic Nonbacterial Osteomyelitis Associated With Familial Mediterranean Fever in Children.

作者信息

Karaçayir Nihal, Tunçez Şerife, Öner Nimet, Çelikel Elif, Bağlan Esra, Gezgin-Yildirim Deniz, Bakkaloğlu Sevcan A

机构信息

From the Department of Pediatric Rheumatology, Gazi University Faculty of Medicine.

Department of Pediatric Rheumatology, Ankara Etlik City Hospital.

出版信息

J Clin Rheumatol. 2024 Apr 1;30(3):89-93. doi: 10.1097/RHU.0000000000002061. Epub 2024 Jan 8.

Abstract

OBJECTIVE

Chronic nonbacterial osteomyelitis (CNO) is a noninfectious autoinflammatory bone condition that frequently occurs alongside other inflammatory diseases, such as familial Mediterranean fever (FMF). We aimed to determine the demographic, clinical, laboratory, and radiological characteristics of patients diagnosed with both FMF and CNO.

METHODS

We reviewed the medical records of pediatric patients with both CNO and FMF at 3 pediatric rheumatology centers in Turkey from December 2008 to 2022. Patients' demographics, laboratory features, imaging findings, and treatment were recorded.

RESULTS

Twelve patients with FMF and CNO were included in the study. Half of them were girls. The mean ages at onset for FMF and CNO symptoms were 80 and 116 months, whereas the ages at diagnosis for FMF and CNO were 100 and 125 months, respectively. Ten patients (83.3%) had M694V mutation on at least 1 allele of the Mediterranean fever ( MEFV ) gene. The most common sites of osteitis were the long bones (58.3%), pelvis (50%), and clavicles (25%). Ten patients (83%) received nonsteroidal anti-inflammatory drugs; 8 (66%) received disease-modifying antirheumatic drugs; biological therapy was administered to 5 patients (41%), who did not respond to these treatments; and all patients received colchicine.

CONCLUSION

The increased frequency of FMF in patients with CNO is of interest. Because most patients with CNO and FMF carried a homozygous or combined heterozygous M694V mutation, we speculated that the M694V mutation may play a role in the development of osteitis. Further studies are needed to elucidate the link between FMF and CNO.

摘要

目的

慢性非细菌性骨髓炎(CNO)是一种非感染性自身炎症性骨病,常与其他炎症性疾病同时发生,如家族性地中海热(FMF)。我们旨在确定同时诊断为FMF和CNO的患者的人口统计学、临床、实验室和放射学特征。

方法

我们回顾了2008年12月至2022年期间土耳其3家儿科风湿病中心患有CNO和FMF的儿科患者的病历。记录了患者的人口统计学、实验室特征、影像学检查结果和治疗情况。

结果

12例FMF和CNO患者纳入本研究。其中一半为女孩。FMF和CNO症状的平均发病年龄分别为80个月和116个月,而FMF和CNO的诊断年龄分别为100个月和125个月。10例患者(83.3%)在地中海热(MEFV)基因的至少1个等位基因上存在M694V突变。骨炎最常见的部位是长骨(58.3%)、骨盆(50%)和锁骨(25%)。10例患者(83%)接受了非甾体类抗炎药治疗;8例(66%)接受了改善病情的抗风湿药物治疗;5例患者(41%)在对这些治疗无反应后接受了生物治疗;所有患者均接受了秋水仙碱治疗。

结论

CNO患者中FMF发病率增加值得关注。由于大多数CNO和FMF患者携带纯合或复合杂合M694V突变,我们推测M694V突变可能在骨炎的发生中起作用。需要进一步研究以阐明FMF与CNO之间的联系。

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