运动性腿痛是儿童家族性地中海热中一种严重的疾病表型。

IF 2.6 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Fatma Aydın, Zeynep Birsin Özçakar, Pınar Özge Avar Aydın, Ece Mekik Akar, Nilgün Çakar
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引用次数: 0

摘要

目的:家族性地中海热(FMF)是最常见的单基因自身炎性疾病。反复发热、浆液炎和关节炎是本病的常见表现。此外,肌肉骨骼的抱怨,如腿部运动疼痛可以被忽视,虽然他们是常见的,并影响患者的生活质量。本研究的目的是评估儿童FMF患者下肢活动性疼痛的频率,并分析这一发现与FMF其他特征的关系。方法:对FMF患者资料进行回顾性分析。比较活动性腿痛患者与非活动性腿痛患者的临床特征及病情严重程度。采用国际FMF严重程度评分系统(ISSF)和more严重程度评分进行评估。结果:本研究纳入541例FMF患者(女性287例),其中149例(27.5%)伴有下肢活动性疼痛。下肢活动性疼痛(p = 0.02)、关节炎(p = 0.001)和关节痛(p小于0.001)患者的秋水仙碱中位剂量明显更高。由more严重性量表和ISSF计算的中位疾病严重程度评分在有腿痛的患者中明显高于没有腿痛的患者(p小于0.001)。在下肢疼痛患者组中,M694V突变,无论是在一个等位基因还是在两个等位基因中,都被发现更为常见(p = 0.006和p小于0.001)。结论:儿童FMF患者的下肢活动性疼痛是中重度病程的组成部分,这可能与M694V突变的存在有很大关系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exertional leg pain represents a severe disease phenotype in childhood familial Mediterranean fever.

Objectives: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. Recurrent fever, serositis, and arthritis are common findings of the disease. In addition, musculoskeletal complaints such as exertional leg pain can be overlooked, although they are common and affect patients' quality of life. The aim of this study was to evaluate the frequency of exertional leg pain in pediatric FMF patients and to analyze the association of this finding with other characteristics of FMF.

Methods: The files of FMF patients were retrospectively evaluated. The clinical characteristics and disease severity of the patients with exertional leg pain were compared with the patients without exertional leg pain. International severity scoring system for FMF (ISSF) and Mor severity score were used for assessment.

Results: The study included 541 FMF patients (287 females), 149 (27.5%) with exertional leg pain. The median colchicine dosage was significantly higher in patients with exertional leg pain (p = 0.02), arthritis (p = 0.001) and arthralgia (p˂0.001) were encountered more frequently in the attacks of these patients. The median disease severity scores calculated by both Mor severity scale and ISSF were significantly higher in patients with exertional leg pain compared to those without (p˂0.001). In the group of patients with exertional leg pain, the M694V mutation, either in one allele or in two alleles, was found to be significantly more common (p = 0.006 and p˂0.001, respectively).

Conclusions: Exertional leg pain in pediatric FMF patients is the component of moderate-to-severe disease course, and this may be considerably associated with the presence of M694V mutation.

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来源期刊
Postgraduate Medicine
Postgraduate Medicine 医学-医学:内科
CiteScore
6.10
自引率
2.40%
发文量
110
审稿时长
6-12 weeks
期刊介绍: Postgraduate Medicine is a rapid peer-reviewed medical journal published for physicians. Tracing its roots back to 1916,  Postgraduate Medicine  was established by Charles Mayo, MD, as a peer-to-peer method of communicating the latest research to aid physicians when making treatment decisions, and it maintains that aim to this day. In addition to its core subscriber base, Postgraduate Medicine is distributed to hundreds of US-based physicians within internal medicine and family practice.
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