Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
Department of Pediatrics, Division of Pediatric Rheumatology, Ankara University School of Medicine, Ankara, Turkey.
Postgrad Med. 2020 Mar;132(2):220-224. doi: 10.1080/00325481.2019.1708147. Epub 2020 Jan 22.
: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self limited attacks of fever with serositis. The aim of this study was to describe the frequency of musculoskeletal complaints in children with FMF and to investigate the effect of genotype on these findings.: Files of patients who had been seen in our department (during routine follow-up visits) were retrospectively evaluated. Comparisons regarding musculoskeletal findings were performed between patients with homozygous/compound heterozygous and heterozygous mutations. Thereafter, patients with two mutations were divided into three groups; M694V/M694V, M694V/other mutation, and patients carrying two mutations other than M694V. Patients with single mutation were divided into two groups; M694V and non M694V carriers.: The study group comprised 317 FMF patients (170 females) with a mean age of 12.2 ± 5.7 years. Arthralgia (42.6%), leg pain (42.9%), and heel pain (35.6%) were the most common musculoskeletal complaints in children with FMF. Frequency of musculoskeletal findings of the patients who had two mutations did not differ from the patients with single mutations (p > 0.05). Leg and heel pain were more frequently detected in patients with homozygous M694V mutation (p = 0.001). Among patients with heterozygous mutations; children with M694V mutation had more frequently arthralgia, leg, and heel pain (p < 0.05).: Musculoskeletal problems were commonly encountered in patients with FMF. Genotype seems to affect the frequency of these problems and M694V mutation is a predisposing factor for musculoskeletal complaints.
家族性地中海热(FMF)是一种常染色体隐性疾病,其特征是反复发作、自限性发热伴浆膜炎。本研究旨在描述 FMF 患儿肌肉骨骼主诉的频率,并探讨基因型对这些发现的影响。
回顾性评估了在我们科室就诊(在常规随访就诊期间)的患者的病历。对纯合/复合杂合突变和杂合突变患者的肌肉骨骼发现进行了比较。然后,将携带两种突变的患者分为三组:M694V/M694V、M694V/其他突变和携带除 M694V 以外的两种突变的患者。将携带单突变的患者分为两组:M694V 和非 M694V 携带者。
研究组包括 317 名 FMF 患者(170 名女性),平均年龄为 12.2±5.7 岁。关节痛(42.6%)、腿痛(42.9%)和足跟痛(35.6%)是儿童 FMF 最常见的肌肉骨骼主诉。携带两种突变的患者的肌肉骨骼发现频率与携带单突变的患者无差异(p>0.05)。纯合 M694V 突变患者更常出现腿痛和足跟痛(p=0.001)。在杂合突变患者中;M694V 突变的儿童更常出现关节痛、腿痛和足跟痛(p<0.05)。
肌肉骨骼问题在 FMF 患者中很常见。基因型似乎影响这些问题的频率,M694V 突变是肌肉骨骼主诉的一个易感因素。